Varaico: Literature-Extracted Genetic Variants

Gene:ARID4B
Variant:p.C420S

ARID4B

140 papers

RefSeq Summary

This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor comple...

Pfam Domains

RBB1NTaa 168–263UCSCRBB1NT (NUC162) domain
ARIDaa 308–394UCSCARID/BRIGHT DNA binding domain
Tudor-knotaa 570–626UCSCRNA binding activity-knot of a chromodomain
Tudor-knotaa 570–626UCSCRNA binding activity-knot of a chromodomain

Gene Aliases

HGNC Name

AT-rich interaction domain 4B

HGNC Previous Symbol

RBP1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016374.6
p.C420S
c.1258T>A
Surrounding Variants
1 paper
NM_016374.6
p.C420R
c.1258T>C
1 paper
NM_016374.6
p.C420S
c.1259G>C
1 paper
NM_016374.6
p.E419E
c.1257G>A
1 paper
NM_016374.6
p.E421_K424del4
c.1261_1271del12
1 paper
NM_016374.6
p.I436N
c.1307T>A
1 paper
NM_016374.6
p.E403*
c.1207G>T
1 paper
NM_016374.6
p.E452*
c.1354G>T
1 paper
NM_016374.6
p.D501D
c.1503T>C
1 paper
NM_016374.6
p.D505G
c.1514A>G
1 paper
NM_016374.6
p.E522*
c.1564G>T
1 paper
NM_016374.6
p.A385_K387Fs
c.1154_1160delinsTGGATGCCCTCTFs
1 paper
NM_016374.6
p.A385fs
c.1153_1154fs
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