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.A1020G

c.3059C>G

Surrounding Variants

1 paper

NM_152641.4

p.A1020E

c.3059C>A

1 paper

NM_152641.4

p.P1021fs

c.3061_3062fs

1 paper

NM_152641.4

p.P1019R

c.3056C>G

1 paper

NM_152641.4

p.P1021L

c.3062C>T

2 papers

NM_152641.4

p.P1022S

c.3064C>T

1 paper

NM_152641.4

p.P1022fs

c.3064_3065fs

1 paper

NM_152641.4

p.S1018*

c.3053C>A

1 paper

NM_152641.4

p.S1018*

c.3053C>G

1 paper

NM_152641.4

p.P1023S

c.3067C>T

2 papers

NM_152641.4

p.P1023L

c.3068C>T

1 paper

NM_152641.4

p.H1017Y

c.3049C>T

1 paper

NM_152641.4

p.Q1016H

c.3048A>C