Varaico: Literature-Extracted Genetic Variants

Gene:RBM8A
Variant:p.D14N

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
1 paper
NM_005105.5
p.D14N
c.40G>A
Surrounding Variants
1 paper
NM_005105.5
p.D14Y
c.40G>T
1 paper
NM_005105.5
p.D14H
c.40G>C
1 paper
NM_005105.5
p.D14E
c.42T>A
1 paper
NM_005105.5
p.E13K
c.37G>A
1 paper
NM_005105.5
p.A16V
c.47C>T
1 paper
NM_005105.5
p.D18V
c.53A>T
1 paper
NM_005105.5
p.E9K
c.25G>A
1 paper
NM_005105.5
p.H8insFs
c.22dupC
1 paper
NM_005105.5
p.L7F
c.19C>T
1 paper
NM_005105.5
p.L7V
c.19C>G
1 paper
NM_005105.5
p.D6delFs
c.16delC
1 paper
NM_005105.5
p.A2_L5del4
c.4_14del12
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