Varaico: Literature-Extracted Genetic Variants

Gene:RBM43
Variant:p.M1_A2Splc

RBM43

33 papers

Pfam Domains

KH_I_RBM43aa 215–289UCSCRBM43, KH-domain type I
RBM43_Caa 293–350UCSCRBM43 C-terminal domain

Gene Aliases

HGNC Name

RNA binding motif protein 43

HGNC Previous Symbol

C2orf38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198557.3
p.M1_A2Splc
c.3+322C>T
Surrounding Variants
1 paper
NM_198557.3
p.A12T
c.34G>A
1 paper
NM_198557.3
p.V24A
c.71T>C
1 paper
NM_198557.3
p.S28N
c.83G>A
4 papers
NM_198557.3
p.V34L
c.100G>T
4 papers
NM_198557.3
p.V34L
c.100G>C
1 paper
NM_198557.3
p.P56S
c.166C>T
2 papers
NM_198557.3
p.P56L
c.167C>T
1 paper
NM_198557.3
p.E69K
c.205G>A
3 papers
NM_198557.3
p.K71fs
c.211_212fs
1 paper
NM_198557.3
p.K71delFs
c.213delT
1 paper
NM_198557.3
p.H90Q
c.270T>G
1 paper
NM_198557.3
p.H90Q
c.270T>A
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