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

2 papers

NM_006015.6

p.A347V

c.1040C>T

Surrounding Variants

1 paper

NM_006015.6

p.A347T

c.1039G>A

2 papers

NM_006015.6

p.A347P

c.1039G>C

1 paper

NM_006015.6

p.A347A

c.1041G>C

1 paper

NM_006015.6

p.A347fs

c.1039_1040fs

2 papers

NM_006015.6

p.A347fs

c.1039_1040fs

1 paper

NM_006015.6

p.A348T

c.1042G>A

1 paper

NM_006015.6

p.A347ins1

c.1040_1041insAGC

1 paper

NM_006015.6

p.A348fs

c.1042_1043fs

1 paper

NM_006015.6

p.A347_A349delFs

c.1039_1046del8

1 paper

NM_006015.6

p.A348D

c.1043C>A

1 paper

NM_006015.6

p.A348_A349delFs

c.1044_1045delCG

1 paper

NM_006015.6

p.A346delFs

c.1038delG