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.K1350*

c.4048A>T

Surrounding Variants

1 paper

NM_152641.4

p.I1349T

c.4046T>C

1 paper

NM_152641.4

p.S1351fs

c.4051_4052fs

1 paper

NM_152641.4

p.I1349V

c.4045A>G

1 paper

NM_152641.4

p.S1351G

c.4051A>G

1 paper

NM_152641.4

p.D1352_F1364del13

c.4054_4091del39

1 paper

NM_152641.4

p.M1346I

c.4038G>A

1 paper

NM_152641.4

p.M1346I

c.4038G>C

1 paper

NM_152641.4

p.M1346I

c.4038G>T

1 paper

NM_152641.4

p.Q1347_D1348Fs

c.4039_4044delinsTFs

1 paper

NM_152641.4

p.L1353F

c.4059G>C

1 paper

NM_152641.4

p.L1353F

c.4059G>T

1 paper

NM_152641.4

p.R1354fs

c.4060_4061fs