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.S1382delFs

c.4145delC

Surrounding Variants

1 paper

NM_152641.4

p.S1382A

c.4144T>G

1 paper

NM_152641.4

p.S1382fs

c.4144_4145fs

1 paper

NM_152641.4

p.S1382F

c.4145C>T

2 papers

NM_152641.4

p.T1381I

c.4142C>T

2 papers

NM_152641.4

p.S1382S

c.4146C>T

1 paper

NM_152641.4

p.H1384N

c.4150C>A

1 paper

NM_152641.4

p.H1384Y

c.4150C>T

1 paper

NM_152641.4

p.H1379insFs

c.4135_4136ins4

1 paper

NM_152641.4

p.H1379fs

c.4135_4136fs

1 paper

NM_152641.4

p.V1385I

c.4153G>A

1 paper

NM_152641.4

p.P1377Q

c.4130C>A

1 paper

NM_152641.4

p.P1377fs

c.4129_4130fs