Varaico: Literature-Extracted Genetic Variants

Gene:ARID2
Variant:p.H1481fs

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
2 papers
NM_152641.4
p.H1481fs
c.4441_4442fs
Surrounding Variants
1 paper
NM_152641.4
p.H1481fs
c.4441_4442fs
4 papers
NM_152641.4
p.H1481delFs
c.4441delC
2 papers
NM_152641.4
p.Q1482E
c.4444C>G
7 papers
NM_152641.4
p.Q1482*
c.4444C>T
1 paper
NM_152641.4
p.I1483V
c.4447A>G
1 paper
NM_152641.4
p.I1483T
c.4448T>C
1 paper
NM_152641.4
p.I1484L
c.4450A>C
1 paper
NM_152641.4
p.I1484L
c.4450A>T
1 paper
NM_152641.4
p.S1476F
c.4427C>T
1 paper
NM_152641.4
p.S1476P
c.4426T>C
1 paper
NM_152641.4
p.S1476fs
c.4426_4427fs
1 paper
NM_152641.4
p.T1475A
c.4423A>G
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