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.V1882L

c.5644G>C

Surrounding Variants

1 paper

NM_006015.6

p.V1882_T1883ins5

c.5644_5648ins15

1 paper

NM_006015.6

p.V1882L

c.5644G>T

1 paper

NM_006015.6

p.H1881_V1882delins

c.5643_5644delinsCC

1 paper

NM_006015.6

p.V1882_T1883delFs

c.5646_5647delGA

1 paper

NM_006015.6

p.H1881insFs

c.5642_5643insCC

1 paper

NM_006015.6

p.H1881R

c.5642A>G

1 paper

NM_006015.6

p.T1883S

c.5647A>T

1 paper

NM_006015.6

p.H1881_V1882ins4

c.5641_5645ins12

1 paper

NM_006015.6

p.T1883_A1885delFs

c.5649_5655del7

1 paper

NM_006015.6

p.K1880K

c.5640G>A

1 paper

NM_006015.6

p.T1884_T1888delFs

c.5650_5663del14

2 papers

NM_006015.6

p.T1884fs

c.5650_5651fs