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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP4-11

Variant:p.C45S

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

Selected Variant

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

Surrounding Variants

5 papers

chr17:41118182 C>G

NM_033059.4

p.C45S

c.134G>C

Keratin_B2_2

exact variant not in gnomAD17 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

1 paper

chr17:41118175 G>A

NM_033059.4

p.S47S

c.141C>T

Keratin_B2_2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr17:41118192 G>A

NM_033059.4

p.P42S

c.124C>T

Keratin_B2_2

exact variant not in gnomAD16 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

1 paper

chr17:41118194 C>T

NM_033059.4

p.R41H

c.122G>A

Keratin_B2_2

Exome: 0.0% (AC=38, hom=0)Genome: 0.0% (AC=6, hom=0)16 overlapping SVs

1 paper

chr17:41118170 C>T

NM_033059.4

p.C49Y

c.146G>A

Keratin_B2_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 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

1 paper

chr17:41118164 C>T

NM_033059.4

p.R51K

c.152G>A

Keratin_B2_2

Exome: 0.0% (AC=105, hom=14)Genome: 0.0% (AC=10, hom=0)17 overlapping SVs

1 paper

chr17:41118163 C>T

NM_033059.4

p.R51R

c.153G>A

Keratin_B2_2

Exome: 5.6% (AC=54973, hom=3)Genome: 22.9% (AC=16809, hom=0)17 overlapping SVs

1 paper

chr17:41118144 C>T

NM_033059.4

p.V58M

c.172G>A

Keratin_B2_2

Exome: 0.0% (AC=114, hom=0)Genome: 0.1% (AC=134, hom=0)17 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

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