Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP4-11

KRTAP4-11

56 papers

RefSeq Summary

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family m...

Pfam Domains

Keratin_B2_2aa 19–63UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 104–148UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-11

HGNC Previous Symbol

KRTAP4-14

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

8 papers

chr17:41118039 T>C

NM_033059.4

p.M93V

c.277A>G

Exome: 0.2% (AC=1473, hom=12)Genome: 2.4% (AC=831, hom=0)18 overlapping SVs

7 papers

chr17:41117835 G>C

NM_033059.4

p.L161V

c.481C>G

Exome: 3.2% (AC=33877, hom=809)Genome: 6.2% (AC=7063, hom=228)15 overlapping SVs

5 papers

chr17:41118183 A>T

NM_033059.4

p.C45S

c.133T>A

Keratin_B2_2

Exome: 1.2% (AC=14924, hom=0)Genome: 6.5% (AC=5141, hom=0)16 overlapping SVs

5 papers

chr17:41118182 C>G

NM_033059.4

p.C45S

c.134G>C

Keratin_B2_2

exact variant not in gnomAD17 overlapping SVs

5 papers

chr17:41118174 T>A

NM_033059.4

p.S48C

c.142A>T

Keratin_B2_2

Exome: 3.3% (AC=39317, hom=0)Genome: 14.2% (AC=10486, hom=0)17 overlapping SVs

3 papers

chr17:41118197 C>T

NM_033059.4

p.C40Y

c.119G>A

Keratin_B2_2

Exome: 0.0% (AC=122, hom=0)Genome: 0.4% (AC=420, hom=0)16 overlapping SVs

3 papers

chr17:41118185 C>T

NM_033059.4

p.C44Y

c.131G>A

Keratin_B2_2

Exome: 0.7% (AC=8959, hom=0)Genome: 5.3% (AC=4405, hom=0)16 overlapping SVs

3 papers

chr17:41118089 C>T

NM_033059.4

p.R76H

c.227G>A

Keratin_B2_2

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=8, hom=0)18 overlapping SVs

3 papers

chr17:41118059 T>C

NM_033059.4

p.K86R

c.257A>G

Exome: 0.2% (AC=2875, hom=8)Genome: 0.8% (AC=773, hom=14)18 overlapping SVs

2 papers

chr17:41118239 C>T

NM_033059.4

p.R26H

c.77G>A

Keratin_B2_2

Exome: 2.6% (AC=38450, hom=1712)Genome: 7.0% (AC=10561, hom=829)16 overlapping SVs

2 papers

chr17:41118225 C>G

NM_033059.4

p.E31Q

c.91G>C

Keratin_B2_2

Exome: 0.0% (AC=87, hom=0)Genome: 0.0% (AC=16, hom=0)16 overlapping SVs

2 papers

chr17:41118112 T>A

NM_033059.4

p.R68S

c.204A>T

Keratin_B2_2

Exome: 0.0% (AC=6, hom=0)Genome: n/a18 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."