Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.R388H

KRT14

650 papers

RefSeq Summary

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecul...

Pfam Domains

Filamentaa 114–425UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 14

HGNC Previous Symbols

EBS3; EBS4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
22 papers
NM_000526.5
p.R388H
c.1163G>A
Surrounding Variants
3 papers
NM_000526.5
p.Q374_R388ins5
c.1121_1162dup42
3 papers
NM_000526.5
p.R388P
c.1163G>C
11 papers
NM_000526.5
p.R388C
c.1162C>T
1 paper
NM_000526.5
p.R388G
c.1162C>G
1 paper
NM_000526.5
p.Q383_A385del3
c.1147_1154del9
1 paper
NM_000526.5
p.L387H
c.1160T>A
1 paper
NM_000526.5
p.I373_Q386ins4
c.1117_1158dup42
1 paper
NM_000526.5
p.Q386_L387ins14
c.1158_1159ins42
1 paper
NM_000526.5
p.Q386*
c.1156C>T
1 paper
NM_000526.5
p.E381_E390ins3
c.1141_1170dup30
5 papers
NM_000526.5
p.E392*
c.1174G>T
1 paper
NM_000526.5
p.E392K
c.1174G>A
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