Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.R314C

ARID2

949 papers

RefSeq Summary

This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulati...

Pfam Domains

ARIDaa 15–101UCSCARID/BRIGHT DNA binding domain
RFX_DNA_bindingaa 521–603UCSCRFX DNA-binding domain

Gene Aliases

HGNC Name

AT-rich interaction domain 2

HGNC Alias Symbols

KIAA1557; DKFZp686G052; FLJ30619; BAF200; SMARCF3; ZIPZAP; p200

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
32 papers
NM_152641.4
p.R314C
c.940C>T
Surrounding Variants
4 papers
NM_152641.4
p.R314S
c.940C>A
1 paper
NM_152641.4
p.R314G
c.940C>G
1 paper
NM_152641.4
p.R314fs
c.940_941fs
2 papers
NM_152641.4
p.R314H
c.941G>A
1 paper
NM_152641.4
p.R314L
c.941G>T
1 paper
NM_152641.4
p.L313F
c.937C>T
1 paper
NM_152641.4
p.R314_F315delFs
c.940_943del4
1 paper
NM_152641.4
p.F315fs
c.943_944fs
1 paper
NM_152641.4
p.F315delFs
c.945delC
1 paper
NM_152641.4
p.C312G
c.934T>G
1 paper
NM_152641.4
p.L316P
c.947T>C
1 paper
NM_152641.4
p.T311I
c.932C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."