Varaico: Literature-Extracted Genetic Variants

Gene:AHDC1
Variant:p.L843_D848del6

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.L843_D848del6
c.2527_2543del18
Surrounding Variants
8 papers
NM_001371928.1
p.L843_S849delFs
c.2529_2545del17
8 papers
NM_001371928.1
p.S849delFs
c.2547delG
7 papers
NM_001371928.1
p.S850fs
c.2548_2549fs
1 paper
NM_001371928.1
p.S850fs
c.2548_2549fs
1 paper
NM_001371928.1
p.D851N
c.2551G>A
1 paper
NM_001371928.1
p.S846L
c.2537C>T
1 paper
NM_001371928.1
p.D845fs
c.2533_2534fs
6 papers
NM_001371928.1
p.D845fs
c.2533_2534fs
2 papers
NM_001371928.1
p.F855delFs
c.2565delA
1 paper
NM_001371928.1
p.R841H
c.2522G>A
9 papers
NM_001371928.1
p.F840delFs
c.2520delA
7 papers
NM_001371928.1
p.R841fs
c.2521_2522fs
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