Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.R91G

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
2 papers
NM_004693.3
p.R91G
c.271A>G
Surrounding Variants
2 papers
NM_004693.3
p.G93A
c.278G>C
1 paper
NM_004693.3
p.A88G
c.263C>G
1 paper
NM_004693.3
p.G85R
c.253G>C
2 papers
NM_004693.3
p.G99G
c.297C>G
1 paper
NM_004693.3
p.G75G
c.225G>A
1 paper
NM_004693.3
p.R70W
c.208C>T
1 paper
NM_004693.3
p.S112R
c.336C>G
1 paper
NM_004693.3
p.G67fs
c.199_200fs
1 paper
NM_004693.3
p.P117A
c.349C>G
1 paper
NM_004693.3
p.S129R
c.387T>A
1 paper
NM_004693.3
p.L136L
c.406C>T
1 paper
NM_004693.3
p.G45R
c.133G>C
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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."