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.K1953fs

c.5857_5858fs

Surrounding Variants

1 paper

NM_006015.6

p.K1953fs

c.5857_5858fs

1 paper

NM_006015.6

p.K1953_L1955delFs

c.5859_5865del7

1 paper

NM_006015.6

p.K1953N

c.5859G>C

1 paper

NM_006015.6

p.K1953N

c.5859G>T

1 paper

NM_006015.6

p.I1954fs

c.5860_5861fs

1 paper

NM_006015.6

p.I1952V

c.5854A>G

1 paper

NM_006015.6

p.I1954V

c.5860A>G

1 paper

NM_006015.6

p.N1951S

c.5852A>G

1 paper

NM_006015.6

p.L1955fs

c.5863_5864fs

5 papers

NM_006015.6

p.R1950Q

c.5849G>A

2 papers

NM_006015.6

p.R1950G

c.5848C>G

2 papers

NM_006015.6

p.R1950W

c.5848C>T