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.S265A

c.793T>G

Surrounding Variants

1 paper

NM_006015.6

p.S265T

c.793T>A

1 paper

NM_006015.6

p.S265P

c.793T>C

1 paper

NM_006015.6

p.S265F

c.794C>T

1 paper

NM_006015.6

p.S265del1

c.793_794delTCC

5 papers

NM_006015.6

p.S264*

c.791C>A

1 paper

NM_006015.6

p.S264L

c.791C>T

1 paper

NM_006015.6

p.F266L

c.796T>C

1 paper

NM_006015.6

p.S264fs

c.790_791fs

2 papers

NM_006015.6

p.S264_Q269del0

c.791_805del15

1 paper

NM_006015.6

p.F266L

c.798C>A

1 paper

NM_006015.6

p.A267_Q269insFs

c.801_805dup5

1 paper

NM_006015.6

p.F266L

c.798C>G