Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.A20insFs

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
Selected Variant
1 paper
NM_017747.3
p.A20insFs
c.58_59insA
Surrounding Variants
1 paper
NM_017747.3
p.P25L
c.74C>T
1 paper
NM_017747.3
p.P25P
c.75A>G
1 paper
NM_017747.3
p.T10S
c.28A>T
1 paper
NM_017747.3
p.P33L
c.98C>T
1 paper
NM_017747.3
p.G38R
c.112G>C
1 paper
NM_017747.3
p.G40R
c.118G>A
1 paper
NM_017747.3
p.G40R
c.118G>C
1 paper
NM_017747.3
p.I41F
c.121A>T
1 paper
NM_017747.3
p.T43delFs
c.127delA
1 paper
NM_017747.3
p.T43fs
c.127_128fs
1 paper
NM_017747.3
p.P52L
c.155C>T
1 paper
NM_017747.3
p.A53G
c.158C>G
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