Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.S1157*

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
1 paper
NM_152641.4
p.S1157*
c.3470C>G
Surrounding Variants
1 paper
NM_152641.4
p.S1157*
c.3470C>A
1 paper
NM_152641.4
p.S1157L
c.3470C>T
1 paper
NM_152641.4
p.I1156F
c.3466A>T
1 paper
NM_152641.4
p.S1159fs
c.3475_3476fs
1 paper
NM_152641.4
p.P1160_T1167delFs
c.3478_3500del23
1 paper
NM_152641.4
p.P1160fs
c.3478_3479fs
1 paper
NM_152641.4
p.P1160S
c.3478C>T
1 paper
NM_152641.4
p.P1154fs
c.3460_3461fs
1 paper
NM_152641.4
p.P1154S
c.3460C>T
1 paper
NM_152641.4
p.A1161T
c.3481G>A
1 paper
NM_152641.4
p.G1153C
c.3457G>T
1 paper
NM_152641.4
p.T1162I
c.3485C>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."