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.L192_Y195del0

c.574_585del12

Surrounding Variants

1 paper

NM_006015.6

p.G191D

c.572G>A

6 papers

NM_006015.6

p.G191A

c.572G>C

1 paper

NM_006015.6

p.G191R

c.571G>C

4 papers

NM_006015.6

p.G191fs

c.571_572fs

3 papers

NM_006015.6

p.G191fs

c.571_572fs

2 papers

NM_006015.6

p.L192fs

c.574_575fs

1 paper

NM_006015.6

p.L192_E193insG

c.574_578ins3

1 paper

NM_006015.6

p.L192L

c.574C>T

1 paper

NM_006015.6

p.L192fs

c.574_575fs

1 paper

NM_006015.6

p.G190G

c.570G>C

2 papers

NM_006015.6

p.G190G

c.570G>T

5 papers

NM_006015.6

p.G191del1

c.571_572delGGC