Varaico: Literature-Extracted Genetic Variants

Gene:SNF8
Variant:p.L40M

SNF8

27 papers

RefSeq Summary

The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lys...

Pfam Domains

EAP30aa 6–226UCSCEAP30/Vps36 family

Gene Aliases

HGNC Name

SNF8 subunit of ESCRT-II

HGNC Alias Symbols

EAP30; VPS22; Dot3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007241.4
p.L40M
c.118T>A
Surrounding Variants
1 paper
NM_007241.4
p.N46D
c.136A>G
1 paper
NM_007241.4
p.A51V
c.152C>T
1 paper
NM_007241.4
p.I75T
c.224T>C
1 paper
NM_007241.4
p.P79L
c.236C>T
1 paper
NM_007241.4
p.E18Q
c.52G>C
1 paper
NM_007241.4
p.A17T
c.49G>A
1 paper
NM_007241.4
p.S82Splc
c.245-4G>A
1 paper
NM_007241.4
p.M90I
c.270G>T
1 paper
NM_007241.4
p.V102I
c.304G>A
1 paper
NM_007241.4
p.Q141Splc
c.423-129G>A
1 paper
NM_007241.4
p.Q141Splc
c.423-1G>C
1 paper
NM_007241.4
p.G159S
c.475G>A
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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."