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.R1354*

c.4060A>T

Surrounding Variants

1 paper

NM_152641.4

p.R1354fs

c.4060_4061fs

1 paper

NM_152641.4

p.R1354K

c.4061G>A

1 paper

NM_152641.4

p.L1353F

c.4059G>C

1 paper

NM_152641.4

p.L1353F

c.4059G>T

1 paper

NM_152641.4

p.P1356delFs

c.4066delC

1 paper

NM_152641.4

p.P1356T

c.4066C>A

1 paper

NM_152641.4

p.P1356fs

c.4066_4067fs

1 paper

NM_152641.4

p.P1356A

c.4066C>G

1 paper

NM_152641.4

p.P1356S

c.4066C>T

2 papers

NM_152641.4

p.P1356L

c.4067C>T

1 paper

NM_152641.4

p.D1352_F1364del13

c.4054_4091del39

1 paper

NM_152641.4

p.S1351fs

c.4051_4052fs