Varaico: Literature-Extracted Genetic Variants

Gene:SMCR8

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
1–12 of 57 variants
2 papers
NM_144775.3
p.P107S
c.319C>T
2 papers
NM_144775.3
p.P257S
c.769C>T
2 papers
NM_144775.3
p.L493F
c.1477C>T
2 papers
NM_144775.3
p.P524L
c.1571C>T
2 papers
NM_144775.3
p.Q716R
c.2147A>G
1 paper
NM_144775.3
p.M1V
c.1A>G
1 paper
NM_144775.3
p.I2T
c.5T>C
1 paper
NM_144775.3
p.S31S
c.93G>A
1 paper
NM_144775.3
p.G50R
c.148G>A
1 paper
NM_144775.3
p.G50R
c.148G>C
1 paper
NM_144775.3
p.G50E
c.149G>A
1 paper
NM_144775.3
p.D98V
c.293A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."