Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP16-1

KRTAP16-1

19 papers

Pfam Domains

Keratin_B2_2aa 68–112UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 128–172UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 173–217UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 193–247UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 243–292UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 16-1

HGNC Alias Symbol

KAP16.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_001146182.2
p.S257T
c.770G>C
2 papers
NM_001146182.2
p.A487G
c.1460C>G
1 paper
NM_001146182.2
p.S7insFs
c.20dupC
1 paper
NM_001146182.2
p.T39T
c.117A>T
1 paper
NM_001146182.2
p.Q70K
c.208C>A
1 paper
NM_001146182.2
p.S87N
c.260G>A
1 paper
NM_001146182.2
p.G88C
c.262G>T
1 paper
NM_001146182.2
p.C94Y
c.281G>A
1 paper
NM_001146182.2
p.V138I
c.412G>A
1 paper
NM_001146182.2
p.C139fs
c.415_416fs
1 paper
NM_001146182.2
p.C139insFs
c.416dupG
1 paper
NM_001146182.2
p.P216R
c.647C>G
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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."