Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8
Variant:p.P538L

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.P538L
c.1613C>T
Surrounding Variants
2 papers
NM_144775.3
p.P524L
c.1571C>T
1 paper
NM_144775.3
p.G553V
c.1658G>T
1 paper
NM_144775.3
p.T522P
c.1564A>C
1 paper
NM_144775.3
p.R556H
c.1667G>A
1 paper
NM_144775.3
p.S516T
c.1547G>C
1 paper
NM_144775.3
p.S513S
c.1539C>T
1 paper
NM_144775.3
p.G572S
c.1714G>A
1 paper
NM_144775.3
p.R503Q
c.1508G>A
2 papers
NM_144775.3
p.L493F
c.1477C>T
1 paper
NM_144775.3
p.L484R
c.1451T>G
1 paper
NM_144775.3
p.A602D
c.1805C>A
1 paper
NM_144775.3
p.N636S
c.1907A>G
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