Varaico: Literature-Extracted Genetic Variants

Gene:RBM43
Variant:p.H90Q

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.H90Q
c.270T>G
Surrounding Variants
1 paper
NM_198557.3
p.H90Q
c.270T>A
1 paper
NM_198557.3
p.V99I
c.295G>A
1 paper
NM_198557.3
p.S100_H101delFs
c.300_301delGA
1 paper
NM_198557.3
p.H101fs
c.301_302fs
2 papers
NM_198557.3
p.I136fs
c.406_407fs
1 paper
NM_198557.3
p.I136insFs
c.406dupA
3 papers
NM_198557.3
p.I136delFs
c.406delT
4 papers
NM_198557.3
p.I136fs
c.406_407fs
1 paper
NM_198557.3
p.S155L
c.464C>T
1 paper
NM_198557.3
p.L220fs
c.658_659fs
1 paper
NM_198557.3
p.L220delFs
c.660delA
1 paper
NM_198557.3
p.I259V
c.775A>G
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