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.P1326delFs

c.3977delC

Surrounding Variants

2 papers

NM_152641.4

p.P1326fs

c.3976_3977fs

1 paper

NM_152641.4

p.E1329K

c.3985G>A

1 paper

NM_152641.4

p.E1329*

c.3985G>T

1 paper

NM_152641.4

p.I1322F

c.3964A>T

1 paper

NM_152641.4

p.L1330F

c.3990A>C

1 paper

NM_152641.4

p.L1330F

c.3990A>T

1 paper

NM_152641.4

p.G1331D

c.3992G>A

1 paper

NM_152641.4

p.E1332D

c.3996G>C

1 paper

NM_152641.4

p.E1332D

c.3996G>T

3 papers

NM_152641.4

p.Q1318*

c.3952C>T

1 paper

NM_152641.4

p.N1317S

c.3950A>G

1 paper

NM_152641.4

p.N1317delins

c.3950_3951delinsGC