Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.V35L

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.V35L
c.103G>C
Surrounding Variants
1 paper
NM_004693.3
p.G45R
c.133G>C
1 paper
NM_004693.3
p.G45R
c.133G>A
1 paper
NM_004693.3
p.G16C
c.46G>T
1 paper
NM_004693.3
p.G67fs
c.199_200fs
1 paper
NM_004693.3
p.M1I
c.3G>T
1 paper
NM_004693.3
p.M1I
c.3G>C
1 paper
NM_004693.3
p.M1I
c.3G>A
1 paper
NM_004693.3
p.M1T
c.2T>C
1 paper
NM_004693.3
p.R70W
c.208C>T
1 paper
NM_004693.3
p.G75G
c.225G>A
1 paper
NM_004693.3
p.G85R
c.253G>C
1 paper
NM_004693.3
p.A88G
c.263C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."