Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8
Variant:p.G50R

SMCR8

80 papers

Pfam Domains

Folliculinaa 83–261UCSCVesicle coat protein involved in Golgi to plasma membrane transport
SMCR8_Caa 712–906UCSCGuanine nucleotide exchange protein SMCR8, C-terminal domain

Gene Aliases

HGNC Name

SMCR8-C9orf72 complex subunit

HGNC Alias Symbols

FLJ34716; DENND8A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144775.3
p.G50R
c.148G>C
Surrounding Variants
1 paper
NM_144775.3
p.G50R
c.148G>A
1 paper
NM_144775.3
p.G50E
c.149G>A
1 paper
NM_144775.3
p.S31S
c.93G>A
1 paper
NM_144775.3
p.I2T
c.5T>C
1 paper
NM_144775.3
p.D98V
c.293A>T
1 paper
NM_144775.3
p.M1V
c.1A>G
2 papers
NM_144775.3
p.P107S
c.319C>T
1 paper
NM_144775.3
p.V118L
c.352G>C
1 paper
NM_144775.3
p.V118L
c.352G>T
1 paper
NM_144775.3
p.V136A
c.407T>C
1 paper
NM_144775.3
p.D161G
c.482A>G
1 paper
NM_144775.3
p.E175K
c.523G>A
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