Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1

ANKHD1

122 papers

RefSeq Summary

This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspas...

Gene Aliases

HGNC Name

ankyrin repeat and KH domain containing 1

HGNC Alias Symbols

MASK; FLJ20288; FLJ11979; FLJ10042; FLJ14127; KIAA1085; MASK1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 160 variants
5 papers
NM_017747.3
p.G60S
c.178G>A
3 papers
NM_017747.3
p.F2455insFs
c.7365dupT
3 papers
NM_017747.3
p.H2456fs
c.7366_7367fs
2 papers
NM_017747.3
p.Q143E
c.427C>G
2 papers
NM_017747.3
p.S240R
c.718A>C
2 papers
NM_017747.3
p.S240R
c.720C>A
2 papers
NM_017747.3
p.S240R
c.720C>G
2 papers
NM_017747.3
p.C1026S
c.3077G>C
2 papers
NM_017747.3
p.S1291L
c.3872C>T
2 papers
NM_017747.3
p.R1912H
c.5735G>A
1 paper
NM_017747.3
p.T10S
c.28A>T
1 paper
NM_017747.3
p.A20insFs
c.58_59insA
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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."