Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8
Variant:p.T293K

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.T293K
c.878C>A
Surrounding Variants
1 paper
NM_144775.3
p.A291V
c.872C>T
1 paper
NM_144775.3
p.Y296*
c.888C>A
1 paper
NM_144775.3
p.Y296*
c.888C>G
1 paper
NM_144775.3
p.M271T
c.812T>C
1 paper
NM_144775.3
p.L319_K320insFs
c.957_958insT
1 paper
NM_144775.3
p.K320fs
c.958_959fs
1 paper
NM_144775.3
p.L266M
c.796T>A
2 papers
NM_144775.3
p.P257S
c.769C>T
1 paper
NM_144775.3
p.Q337H
c.1011G>C
1 paper
NM_144775.3
p.Q337H
c.1011G>T
1 paper
NM_144775.3
p.N220D
c.658A>G
1 paper
NM_144775.3
p.E377K
c.1129G>A
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