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.G1069D

c.3206G>A

Surrounding Variants

1 paper

NM_152641.4

p.G1069S

c.3205G>A

1 paper

NM_152641.4

p.G1069R

c.3205G>C

2 papers

NM_152641.4

p.R1068H

c.3203G>A

1 paper

NM_152641.4

p.S1071P

c.3211T>C

1 paper

NM_152641.4

p.S1071L

c.3212C>T

1 paper

NM_152641.4

p.T1072_P1073insCT

c.3214_3218ins6

3 papers

NM_152641.4

p.P1066L

c.3197C>T

1 paper

NM_152641.4

p.P1066fs

c.3196_3197fs

3 papers

NM_152641.4

p.P1073S

c.3217C>T

1 paper

NM_152641.4

p.L1065insFs

c.3194_3195insG

1 paper

NM_152641.4

p.G1075C

c.3223G>T

2 papers

NM_152641.4

p.Q1062*

c.3184C>T