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.E1028E

c.3084A>G

Surrounding Variants

1 paper

NM_002892.4

p.A1033P

c.3097G>C

1 paper

NM_002892.4

p.R1017Q

c.3050G>A

1 paper

NM_002892.4

p.V1005L

c.3013G>C

1 paper

NM_002892.4

p.V1005L

c.3013G>T

1 paper

NM_002892.4

p.S1004*

c.3011C>A

1 paper

NM_002892.4

p.S1004*

c.3011C>G

1 paper

NM_002892.4

p.S1059T

c.3176G>C

1 paper

NM_002892.4

p.Q1063fs

c.3187_3188fs

1 paper

NM_002892.4

p.A994G

c.2981C>G

1 paper

NM_002892.4

p.Q1063insFs

c.3188_3189insAG

3 papers

NM_002892.4

p.S1067delFs

c.3199_3200delAG

1 paper

NM_002892.4

p.R1065S

c.3195A>C