Varaico: Literature-Extracted Genetic Variants

Gene:RBM10
Variant:p.E52*

RBM10

345 papers

RefSeq Summary

This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternativ...

Pfam Domains

RRM_1aa 131–202UCSCRNA recognition motif
Zn_ribbon_RanBPaa 214–242UCSCZn-finger in Ran binding protein and others
OCREaa 568–619UCSCOCRE domain
G-patchaa 858–902UCSCG-patch domain

Gene Aliases

HGNC Name

RNA binding motif protein 10

HGNC Alias Symbols

DXS8237E; KIAA0122; GPATC9; ZRANB5; GPATCH9; S1-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005676.5
p.E52*
c.154G>T
Surrounding Variants
3 papers
NM_005676.5
p.Q51H
c.153G>C
1 paper
NM_005676.5
p.E52D
c.156G>C
1 paper
NM_005676.5
p.E52D
c.156G>T
1 paper
NM_005676.5
p.Q51*
c.151C>T
2 papers
NM_005676.5
p.G53delFs
c.159delC
NM_001204468.2
p.G118delFs
c.354delC
3 papers
NM_005676.5
p.K54fs
c.160_161fs
NM_001204468.2
p.K119fs
c.355_356fs
1 paper
NM_005676.5
p.G49S
c.145G>A
1 paper
NM_005676.5
p.E47_Y48insT
c.139_143ins3
2 papers
NM_005676.5
p.E47*
c.139G>T
1 paper
NM_005676.5
p.R46insFs
c.136dupC
1 paper
NM_005676.5
p.D59_S65del7
c.175_194del21
1 paper
NM_005676.5
p.Y44*
c.132T>A
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