Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.E1122_A1123insC

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.E1122_A1123insC
c.3364_3368ins3
Surrounding Variants
1 paper
NM_001371928.1
p.A1123T
c.3367G>A
1 paper
NM_001371928.1
p.W1119C
c.3357G>T
1 paper
NM_001371928.1
p.W1119C
c.3357G>C
1 paper
NM_001371928.1
p.F1124delFs
c.3371_3372delAA
1 paper
NM_001371928.1
p.Q1126*
c.3376C>T
1 paper
NM_001371928.1
p.G1116_L1117insC
c.3346_3350ins3
3 papers
NM_001371928.1
p.F1102_Y1114del13
c.3304_3341del39
1 paper
NM_001371928.1
p.Y1114C
c.3341A>G
1 paper
NM_001371928.1
p.S1131N
c.3392G>A
1 paper
NM_001371928.1
p.R1111Q
c.3332G>A
1 paper
NM_001371928.1
p.R1111W
c.3331C>T
1 paper
NM_001371928.1
p.V1136I
c.3406G>A
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