Varaico: Literature-Extracted Genetic Variants

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.R1273L

c.3818G>T

Surrounding Variants

8 papers

NM_152641.4

p.R1273*

c.3817C>T

4 papers

NM_152641.4

p.G1274del1

c.3820_3821delGGA

2 papers

NM_152641.4

p.G1274R

c.3820G>A

1 paper

NM_152641.4

p.G1274R

c.3820G>C

1 paper

NM_152641.4

p.G1274*

c.3820G>T

1 paper

NM_152641.4

p.R1272Q

c.3815G>A

9 papers

NM_152641.4

p.R1272*

c.3814C>T

1 paper

NM_152641.4

p.C1271G

c.3811T>G

1 paper

NM_152641.4

p.C1271fs

c.3811_3812fs

1 paper

NM_152641.4

p.T1276A

c.3826A>G

1 paper

NM_152641.4

p.N1277D

c.3829A>G

2 papers

NM_152641.4

p.P1269L

c.3806C>T