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.D1240ins2

c.3718_3719ins6

Surrounding Variants

1 paper

NM_152641.4

p.K1241*

c.3721A>T

1 paper

NM_152641.4

p.I1243fs

c.3727_3728fs

1 paper

NM_152641.4

p.F1237fs

c.3709_3710fs

2 papers

NM_152641.4

p.P1236L

c.3707C>T

1 paper

NM_152641.4

p.P1236S

c.3706C>T

1 paper

NM_152641.4

p.P1235H

c.3704C>A

1 paper

NM_152641.4

p.Q1245R

c.3734A>G

1 paper

NM_152641.4

p.P1236insFs

c.3707dupC

1 paper

NM_152641.4

p.K1246_E1249delFs

c.3738_3747del10

1 paper

NM_152641.4

p.T1234I

c.3701C>T

1 paper

NM_152641.4

p.A1233D

c.3698C>A

1 paper

NM_152641.4

p.E1247Q

c.3739G>C