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.S990L

c.2969C>T

Surrounding Variants

1 paper

NM_152641.4

p.S989S

c.2967G>A

1 paper

NM_152641.4

p.S992_T993del2

c.2974_2978del6

1 paper

NM_152641.4

p.S991C

c.2972C>G

2 papers

NM_152641.4

p.S989L

c.2966C>T

2 papers

NM_152641.4

p.S991F

c.2972C>T

1 paper

NM_152641.4

p.S989fs

c.2965_2966fs

1 paper

NM_152641.4

p.S992F

c.2975C>T

1 paper

NM_152641.4

p.T993S

c.2977A>T

1 paper

NM_152641.4

p.T993S

c.2978C>G

1 paper

NM_152641.4

p.A987V

c.2960C>T

1 paper

NM_152641.4

p.A987T

c.2959G>A

1 paper

NM_152641.4

p.P994L

c.2981C>T