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.H1949delFs

c.5846delA

Surrounding Variants

1 paper

NM_006015.6

p.H1949fs

c.5845_5846fs

1 paper

NM_006015.6

p.H1949R

c.5846A>G

1 paper

NM_006015.6

p.S1948N

c.5843G>A

1 paper

NM_006015.6

p.S1948fs

c.5842_5843fs

2 papers

NM_006015.6

p.R1950G

c.5848C>G

2 papers

NM_006015.6

p.R1950W

c.5848C>T

5 papers

NM_006015.6

p.R1950Q

c.5849G>A

2 papers

NM_006015.6

p.Q1947H

c.5841G>C

2 papers

NM_006015.6

p.Q1947H

c.5841G>T

1 paper

NM_006015.6

p.Q1947R

c.5840A>G

1 paper

NM_006015.6

p.Q1947E

c.5839C>G

6 papers

NM_006015.6

p.Q1947*

c.5839C>T