Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.S69Splc

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
6 papers
NM_005105.5
p.S69Splc
c.206-13C>A
Surrounding Variants
1 paper
NM_005105.5
p.S69fs
c.205_206fs
2 papers
NM_005105.5
p.S69_V70insFs
c.207_208ins4
1 paper
NM_005105.5
p.V70F
c.208G>T
2 papers
NM_005105.5
p.S69_V70insFs
c.207_208ins5
1 paper
NM_005105.5
p.I74M
c.222T>G
1 paper
NM_005105.5
p.F76V
c.226T>G
1 paper
NM_005105.5
p.V80I
c.238G>A
1 paper
NM_005105.5
p.V80fs
c.238_239fs
1 paper
NM_005105.5
p.H81insFs
c.241dupC
1 paper
NM_005105.5
p.E82A
c.245A>C
1 paper
NM_005105.5
p.E83A
c.248A>C
1 paper
NM_005105.5
p.E86A
c.257A>C
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