Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.E1285D

AHDC1

257 papers

RefSeq Summary

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014].

Pfam Domains

DUF4683aa 570–642UCSCDomain of unknown function (DUF4683)

Gene Aliases

HGNC Name

AT-hook DNA binding motif containing 1

HGNC Alias Symbols

DJ159A19.3; RP1-159A19.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371928.1
p.E1285D
c.3855G>T
Surrounding Variants
1 paper
NM_001371928.1
p.E1285D
c.3855G>C
1 paper
NM_001371928.1
p.S1281*
c.3842C>G
1 paper
NM_001371928.1
p.S1281*
c.3842C>A
1 paper
NM_001371928.1
p.G1277V
c.3830G>T
1 paper
NM_001371928.1
p.G1277S
c.3829G>A
1 paper
NM_001371928.1
p.G1276D
c.3827G>A
1 paper
NM_001371928.1
p.R1275Q
c.3824G>A
6 papers
NM_001371928.1
p.R1272*
c.3814C>T
1 paper
NM_001371928.1
p.Q1270fs
c.3808_3809fs
9 papers
NM_001371928.1
p.Q1270delFs
c.3809delT
10 papers
NM_001371928.1
p.Q1270fs
c.3808_3809fs
2 papers
NM_001371928.1
p.R1269W
c.3805C>T
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