Varaico: Literature-Extracted Genetic Variants

Gene:KRT75
Variant:p.E242G

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.E242G
c.725A>G
Surrounding Variants
1 paper
NM_004693.3
p.E240K
c.718G>A
1 paper
NM_004693.3
p.K245K
c.735G>A
1 paper
NM_004693.3
p.R246C
c.736C>T
1 paper
NM_004693.3
p.E269A
c.806A>C
1 paper
NM_004693.3
p.S276F
c.827C>T
2 papers
NM_004693.3
p.P278P
c.834C>T
1 paper
NM_004693.3
p.I281delFs
c.843delG
1 paper
NM_004693.3
p.A223T
c.667G>A
1 paper
NM_004693.3
p.I214V
c.640A>G
1 paper
NM_004693.3
p.R209Q
c.626G>A
1 paper
NM_004693.3
p.L207L
c.621C>A
1 paper
NM_004693.3
p.D201H
c.601G>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."