Varaico: Literature-Extracted Genetic Variants

Gene:ANKHD1
Variant:p.E2410*

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.E2410*
c.7228G>T
Surrounding Variants
1 paper
NM_017747.3
p.P2386A
c.7156C>G
1 paper
NM_017747.3
p.D2431G
c.7292A>G
3 papers
NM_017747.3
p.F2455insFs
c.7365dupT
3 papers
NM_017747.3
p.H2456fs
c.7366_7367fs
1 paper
NM_017747.3
p.P2503S
c.7507C>T
1 paper
NM_017747.3
p.N2341T
c.7022A>C
1 paper
NM_017747.3
p.G2310E
c.6929G>A
1 paper
NM_017747.3
p.A2303S
c.6907G>T
1 paper
NM_017747.3
p.I2288S
c.6863T>G
1 paper
NM_017747.3
p.N2225K
c.6675C>A
1 paper
NM_017747.3
p.N2187D
c.6559A>G
1 paper
NM_017747.3
p.Q2171E
c.6511C>G
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