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

3 papers

NM_006015.6

p.L2125R

c.6374T>G

Surrounding Variants

1 paper

NM_006015.6

p.L2125P

c.6374T>C

1 paper

NM_006015.6

p.L2125insFs

c.6374_6375ins8

1 paper

NM_006015.6

p.L2125F

c.6373C>T

1 paper

NM_006015.6

p.S2126fs

c.6376_6377fs

1 paper

NM_006015.6

p.S2126R

c.6376A>C

1 paper

NM_006015.6

p.K2124K

c.6372A>G

1 paper

NM_006015.6

p.K2124R

c.6371A>G

2 papers

NM_006015.6

p.S2126N

c.6377G>A

1 paper

NM_006015.6

p.S2126R

c.6378C>A

1 paper

NM_006015.6

p.S2126R

c.6378C>G

1 paper

NM_006015.6

p.I2127M

c.6381C>G

2 papers

NM_006015.6

p.I2127I

c.6381C>T