Varaico: Literature-Extracted Genetic Variants

Gene:UNC50
Variant:p.H181Splc

UNC50

19 papers

Pfam Domains

UNC-50aa 51–272UCSCUNC-50 family

Gene Aliases

HGNC Name

unc-50 inner nuclear membrane RNA binding protein

HGNC Alias Symbols

URP; UNCL; GMH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014044.7
p.H181Splc
c.541+1G>T
Surrounding Variants
1 paper
NM_014044.7
p.F178delFs
c.533delT
1 paper
NM_014044.7
p.G194fs
c.580_581fs
1 paper
NM_014044.7
p.G194insFs
c.582dupA
1 paper
NM_014044.7
p.S214G
c.640A>G
1 paper
NM_014044.7
p.A215insFs
c.643_644ins4
1 paper
NM_014044.7
p.A215insFs
c.643_644ins17
1 paper
NM_014044.7
p.A215Splc
c.644-4C>T
2 papers
NM_014044.7
p.L250_C251delFs
c.750_751delCT
1 paper
NM_014044.7
p.C251fs
c.751_752fs
1 paper
NM_014044.7
p.Y254S
c.761A>C
1 paper
NM_014044.7
p.R257T
c.770G>C
1 paper
NM_014044.7
p.V258M
c.772G>A
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