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.Q1339R

c.4016A>G

Surrounding Variants

1 paper

NM_152641.4

p.Q1339L

c.4016A>T

1 paper

NM_152641.4

p.Q1339H

c.4017G>C

1 paper

NM_152641.4

p.Q1339H

c.4017G>T

1 paper

NM_152641.4

p.S1341_Q1343delFs

c.4021_4027del7

1 paper

NM_152641.4

p.N1340K

c.4020C>A

1 paper

NM_152641.4

p.N1340K

c.4020C>G

1 paper

NM_152641.4

p.K1338_S1341del4

c.4012_4022del12

1 paper

NM_152641.4

p.S1341fs

c.4021_4022fs

1 paper

NM_152641.4

p.S1341L

c.4022C>T

1 paper

NM_152641.4

p.Q1343insFs

c.4027_4028ins14

2 papers

NM_152641.4

p.S1336P

c.4006T>C

1 paper

NM_152641.4

p.A1335_S1336delins

c.4005_4006delinsGC