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.A1946_S1948insFs

c.5838_5844dup7

Surrounding Variants

1 paper

NM_006015.6

p.P1945L

c.5834C>T

1 paper

NM_006015.6

p.P1945fs

c.5833_5834fs

1 paper

NM_006015.6

p.P1945_A1946insT

c.5833_5837ins3

1 paper

NM_006015.6

p.P1945S

c.5833C>T

2 papers

NM_006015.6

p.A1946S

c.5836G>T

1 paper

NM_006015.6

p.S1944G

c.5830A>G

1 paper

NM_006015.6

p.Q1947E

c.5839C>G

6 papers

NM_006015.6

p.Q1947*

c.5839C>T

1 paper

NM_006015.6

p.Q1947R

c.5840A>G

1 paper

NM_006015.6

p.I1943V

c.5827A>G

1 paper

NM_006015.6

p.I1943fs

c.5827_5828fs

2 papers

NM_006015.6

p.Q1947H

c.5841G>C