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

3 papers

NM_152641.4

p.R542Q

c.1625G>A

Surrounding Variants

15 papers

NM_152641.4

p.R542*

c.1624C>T

1 paper

NM_152641.4

p.E544K

c.1630G>A

1 paper

NM_152641.4

p.V540A

c.1619T>C

1 paper

NM_152641.4

p.E544D

c.1632A>T

1 paper

NM_152641.4

p.M545R

c.1634T>G

3 papers

NM_152641.4

p.M545I

c.1635G>A

2 papers

NM_152641.4

p.M545I

c.1635G>C

2 papers

NM_152641.4

p.M545I

c.1635G>T

1 paper

NM_152641.4

p.S539P

c.1615T>C

1 paper

NM_152641.4

p.S539fs

c.1615_1616fs

1 paper

NM_152641.4

p.S539delFs

c.1616_1617delCT

1 paper

NM_152641.4

p.C538F

c.1613G>T