Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-6

KRTAP4-6

32 papers

Pfam Domains

Keratin_B2_2aa 3–49UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 50–93UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 74–118UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-6

HGNC Previous Symbol

KRTAP4-15

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
4 papers
NM_030976.2
p.S110C
c.328A>T
3 papers
NM_030976.2
p.S127P
c.379T>C
2 papers
NM_030976.2
p.R62H
c.185G>A
2 papers
NM_030976.2
p.I191I
c.573T>C
2 papers
NM_030976.2
p.R196R
c.588T>C
2 papers
NM_030976.2
p.S202F
c.605C>T
1 paper
NM_030976.2
p.T19P
c.55A>C
1 paper
NM_030976.2
p.T33I
c.98C>T
1 paper
NM_030976.2
p.C35Y
c.104G>A
1 paper
NM_030976.2
p.Q27_R37delins
c.79_109delinsATCTCCAGCTGCTGTC
1 paper
NM_030976.2
p.R47K
c.140G>A
1 paper
NM_030976.2
p.R62C
c.184C>T
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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."