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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRTAP10-2

KRTAP10-2

40 papers

RefSeq Summary

This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair f...

Pfam Domains

Keratin_B2_2aa 74–118UCSCKeratin, high sulfur B2 protein

Keratin_B2_2aa 155–206UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 10-2

HGNC Previous Symbol

KRTAP18-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

7 papers

chr21:44551226 G>A

NM_198693.4

p.S78L

c.233C>T

Keratin_B2_2

Exome: 0.0% (AC=75, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

3 papers

chr21:44551269 G>A

NM_198693.4

p.P64S

c.190C>T

Exome: 0.1% (AC=949, hom=0)Genome: 0.0% (AC=5, hom=0)10 overlapping SVs

3 papers

chr21:44551199 G>A

NM_198693.4

p.P87L

c.260C>T

Keratin_B2_2

Exome: 0.0% (AC=183, hom=0)Genome: 0.0% (AC=29, hom=0)10 overlapping SVs

3 papers

chr21:44550891 G>A

NM_198693.4

p.P190S

c.568C>T

Keratin_B2_2

exact variant not in gnomAD10 overlapping SVs

2 papers

chr21:44551416 T>C

NM_198693.4

p.N15D

c.43A>G

Exome: 20.5% (AC=300220, hom=32161)Genome: 19.3% (AC=29354, hom=2971)12 overlapping SVs

2 papers

chr21:44551343 G>A

NM_198693.4

p.P39L

c.116C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

2 papers

chr21:44551279 C>T

NM_198693.4

p.A60A

c.180G>A

Exome: 0.2% (AC=2049, hom=0)Genome: 0.0% (AC=31, hom=0)11 overlapping SVs

2 papers

chr21:44550738 G>C

NM_198693.4

p.R241G

c.721C>G

Exome: 0.2% (AC=2540, hom=65)Genome: 0.2% (AC=272, hom=6)9 overlapping SVs

1 paper

chr21:44551373 A>G

NM_198693.4

p.L29P

c.86T>C

Exome: 0.0% (AC=27, hom=0)Genome: 0.0% (AC=8, hom=0)12 overlapping SVs

1 paper

chr21:44551365 C>T

NM_198693.4

p.G32S

c.94G>A

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

1 paper

chr21:44551362 T>C

NM_198693.4

p.T33A

c.97A>G

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr21:44551359 G>C

NM_198693.4

p.P34A

c.100C>G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=0, hom=0)12 overlapping SVs

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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."