Varaico: Literature-Extracted Genetic Variants

ARID4A

145 papers

RefSeq Summary

The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB re...

Pfam Domains

RBB1NTaa 170–262UCSCRBB1NT (NUC162) domain

ARIDaa 311–397UCSCARID/BRIGHT DNA binding domain

Tudor-knotaa 574–630UCSCRNA binding activity-knot of a chromodomain

Gene Aliases

HGNC Name

AT-rich interaction domain 4A

HGNC Previous Symbol

RBBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002892.4

p.M877I

c.2631G>C

Surrounding Variants

1 paper

NM_002892.4

p.M877I

c.2631G>A

1 paper

NM_002892.4

p.M877I

c.2631G>T

1 paper

NM_002892.4

p.D888V

c.2663A>T

1 paper

NM_002892.4

p.E845fs

c.2533_2534fs

1 paper

NM_002892.4

p.E845delFs

c.2534_2535delAA

1 paper

NM_002892.4

p.E845del1

c.2533_2534delGAA

1 paper

NM_002892.4

p.S832A

c.2494T>G

1 paper

NM_002892.4

p.I940N

c.2819T>A

2 papers

NM_002892.4

p.Q814Q

c.2442G>A

1 paper

NM_002892.4

p.G813C

c.2437G>T

1 paper

NM_002892.4

p.S811L

c.2432C>T

1 paper

NM_002892.4

p.I809L

c.2425A>C