Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8
Variant:p.E432K

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.E432K
c.1294G>A
Surrounding Variants
1 paper
NM_144775.3
p.S402A
c.1204T>G
1 paper
NM_144775.3
p.Q386fs
c.1156_1157fs
1 paper
NM_144775.3
p.V383M
c.1147G>A
1 paper
NM_144775.3
p.L484R
c.1451T>G
1 paper
NM_144775.3
p.E377K
c.1129G>A
2 papers
NM_144775.3
p.L493F
c.1477C>T
1 paper
NM_144775.3
p.R503Q
c.1508G>A
1 paper
NM_144775.3
p.S513S
c.1539C>T
1 paper
NM_144775.3
p.S516T
c.1547G>C
1 paper
NM_144775.3
p.T522P
c.1564A>C
2 papers
NM_144775.3
p.P524L
c.1571C>T
1 paper
NM_144775.3
p.Q337H
c.1011G>C
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