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

4 papers

NM_006015.6

p.L1805fs

c.5413_5414fs

Surrounding Variants

1 paper

NM_006015.6

p.K1804K

c.5412G>A

1 paper

NM_006015.6

p.L1805L

c.5415G>C

1 paper

NM_006015.6

p.L1805_I1806delins

c.5415_5416delinsAG

1 paper

NM_006015.6

p.K1804fs

c.5410_5411fs

1 paper

NM_006015.6

p.I1806_S1807ins4

c.5416_5420ins12

2 papers

NM_006015.6

p.I1806V

c.5416A>G

1 paper

NM_006015.6

p.I1806delFs

c.5418delC

1 paper

NM_006015.6

p.I1806M

c.5418C>G

1 paper

NM_006015.6

p.S1807_K1808delFs

c.5419_5422del4

3 papers

NM_006015.6

p.S1807fs

c.5419_5420fs

1 paper

NM_006015.6

p.S1807G

c.5419A>G

1 paper

NM_006015.6

p.S1807fs

c.5419_5420fs