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.K2025R

c.6074A>G

Surrounding Variants

1 paper

NM_006015.6

p.K2025E

c.6073A>G

1 paper

NM_006015.6

p.Q2026insFs

c.6077dupA

7 papers

NM_006015.6

p.Q2026*

c.6076C>T

7 papers

NM_006015.6

p.R2024Q

c.6071G>A

1 paper

NM_006015.6

p.R2024fs

c.6070_6071fs

3 papers

NM_006015.6

p.R2024W

c.6070C>T

1 paper

NM_006015.6

p.Q2026Q

c.6078G>A

1 paper

NM_006015.6

p.Q2026H

c.6078G>C

1 paper

NM_006015.6

p.Q2026H

c.6078G>T

1 paper

NM_006015.6

p.A2027fs

c.6079_6080fs

1 paper

NM_006015.6

p.A2027S

c.6079G>T

2 papers

NM_006015.6

p.A2027V

c.6080C>T