Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.Y124F

RBM8A

104 papers

RefSeq Summary

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mR...

Pfam Domains

RRM_1aa 75–145UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 8A

HGNC Previous Symbol

RBM8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005105.5
p.Y124F
c.371A>T
Surrounding Variants
1 paper
NM_005105.5
p.E122V
c.365A>T
1 paper
NM_005105.5
p.E122A
c.365A>C
1 paper
NM_005105.5
p.A129delFs
c.385delC
6 papers
NM_005105.5
p.L118R
c.353T>G
1 paper
NM_005105.5
p.E132*
c.394G>T
2 papers
NM_005105.5
p.G115fs
c.343_344fs
2 papers
NM_005105.5
p.K114_G115Splc
c.343-2A>G
1 paper
NM_005105.5
p.Q137H
c.411G>C
1 paper
NM_005105.5
p.D138H
c.412G>C
1 paper
NM_005105.5
p.P143S
c.427C>T
1 paper
NM_005105.5
p.F150V
c.448T>G
1 paper
NM_005105.5
p.G162S
c.484G>A
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