Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.S129R

KRT75

131 papers

RefSeq Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of ep...

Pfam Domains

Keratin_2_headaa 16–145UCSCKeratin type II head
Filamentaa 148–461UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 75

HGNC Alias Symbol

K6HF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004693.3
p.S129R
c.387T>A
Surrounding Variants
1 paper
NM_004693.3
p.L136L
c.406C>T
1 paper
NM_004693.3
p.P117A
c.349C>G
2 papers
NM_004693.3
p.R144W
c.430C>T
1 paper
NM_004693.3
p.S112R
c.336C>G
1 paper
NM_004693.3
p.E148Q
c.442G>C
2 papers
NM_004693.3
p.G99G
c.297C>G
10 papers
NM_004693.3
p.A161T
c.481G>A
2 papers
NM_004693.3
p.G93A
c.278G>C
2 papers
NM_004693.3
p.R91G
c.271A>G
1 paper
NM_004693.3
p.A88G
c.263C>G
1 paper
NM_004693.3
p.G85R
c.253G>C
1 paper
NM_004693.3
p.G75G
c.225G>A
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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."