Varaico: Literature-Extracted Genetic Variants

ARID1A

2,994 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure aroun...

Pfam Domains

ARIDaa 1019–1104UCSCARID/BRIGHT DNA binding domain

BAF250_Caa 1976–2231UCSCSWI/SNF-like complex subunit BAF250/Osa

Gene Aliases

HGNC Name

AT-rich interaction domain 1A

HGNC Previous Symbols

C1orf4; SMARCF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006015.6

p.M2055I

c.6165G>A

Surrounding Variants

1 paper

NM_006015.6

p.M2055I

c.6165G>C

1 paper

NM_006015.6

p.M2055I

c.6165G>T

1 paper

NM_006015.6

p.L2056I

c.6166C>A

1 paper

NM_006015.6

p.L2056F

c.6166C>T

1 paper

NM_006015.6

p.M2055insFs

c.6164_6165ins4

2 papers

NM_006015.6

p.L2056R

c.6167T>G

1 paper

NM_006015.6

p.R2057G

c.6169C>G

3 papers

NM_006015.6

p.R2057W

c.6169C>T

5 papers

NM_006015.6

p.R2057Q

c.6170G>A

3 papers

NM_006015.6

p.E2054*

c.6160G>T

1 paper

NM_006015.6

p.L2053_E2054delins

c.6159_6160delinsTT

2 papers

NM_006015.6

p.E2058*

c.6172G>T