Varaico: Literature-Extracted Genetic Variants

Gene:SNF8
Variant:p.Q141Splc

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.Q141Splc
c.423-129G>A
Surrounding Variants
1 paper
NM_007241.4
p.Q141Splc
c.423-1G>C
1 paper
NM_007241.4
p.G159S
c.475G>A
1 paper
NM_007241.4
p.P162L
c.485C>T
1 paper
NM_007241.4
p.Y167*
c.501C>G
1 paper
NM_007241.4
p.Y167*
c.501C>A
1 paper
NM_007241.4
p.Q185R
c.554A>G
1 paper
NM_007241.4
p.G191D
c.572G>A
1 paper
NM_007241.4
p.R208L
c.623G>T
1 paper
NM_007241.4
p.R210W
c.628C>T
2 papers
NM_007241.4
p.R210R
c.630G>T
1 paper
NM_007241.4
p.L213_E214Splc
c.640-112A>G
1 paper
NM_007241.4
p.D225_A228Fs
c.673_683delinsTGGAFs
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