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.Q1124*

c.3370C>T

Surrounding Variants

1 paper

NM_152641.4

p.Q1124H

c.3372G>C

1 paper

NM_152641.4

p.Q1124H

c.3372G>T

4 papers

NM_152641.4

p.Q1128*

c.3382C>T

1 paper

NM_152641.4

p.Q1119R

c.3356A>G

3 papers

NM_152641.4

p.Q1118*

c.3352C>T

2 papers

NM_152641.4

p.P1131S

c.3391C>T

1 paper

NM_152641.4

p.A1117S

c.3349G>T

1 paper

NM_152641.4

p.A1117fs

c.3349_3350fs

1 paper

NM_152641.4

p.P1116_A1117insFs

c.3348_3349ins22

1 paper

NM_152641.4

p.P1131Q

c.3392C>A

1 paper

NM_152641.4

p.P1116T

c.3346C>A

1 paper

NM_152641.4

p.P1116S

c.3346C>T