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.N1280K

c.3840T>G

Surrounding Variants

1 paper

NM_152641.4

p.N1280K

c.3840T>A

1 paper

NM_152641.4

p.G1281W

c.3841G>T

3 papers

NM_152641.4

p.G1281A

c.3842G>C

2 papers

NM_152641.4

p.D1282Y

c.3844G>T

1 paper

NM_152641.4

p.T1283_K1284delFs

c.3847_3850del4

1 paper

NM_152641.4

p.T1283fs

c.3847_3848fs

1 paper

NM_152641.4

p.T1283I

c.3848C>T

1 paper

NM_152641.4

p.K1284_M1288del5

c.3850_3863del15

1 paper

NM_152641.4

p.N1277D

c.3829A>G

1 paper

NM_152641.4

p.E1285_N1286del2

c.3853_3857del6

1 paper

NM_152641.4

p.T1276A

c.3826A>G

1 paper

NM_152641.4

p.E1285D

c.3855A>C