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

2 papers

NM_152641.4

p.V1172I

c.3514G>A

Surrounding Variants

1 paper

NM_152641.4

p.Q1171*

c.3511C>T

1 paper

NM_152641.4

p.T1175delFs

c.3524delC

1 paper

NM_152641.4

p.S1168C

c.3503C>G

1 paper

NM_152641.4

p.T1167I

c.3500C>T

1 paper

NM_152641.4

p.G1166E

c.3497G>A

1 paper

NM_152641.4

p.P1178S

c.3532C>T

1 paper

NM_152641.4

p.G1166R

c.3496G>C

2 papers

NM_152641.4

p.Q1165*

c.3493C>T

1 paper

NM_152641.4

p.N1179I

c.3536A>T

1 paper

NM_152641.4

p.T1180fs

c.3538_3539fs

1 paper

NM_152641.4

p.T1180K

c.3539C>A

1 paper

NM_152641.4

p.T1180M

c.3539C>T