Varaico: Literature-Extracted Genetic Variants

Gene:VPS51

VPS51

68 papers

RefSeq Summary

This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering...

Pfam Domains

VPS51_Exo84_Naa 63–148UCSCVps51/EXO84/COG1 N-terminal

Gene Aliases

HGNC Name

VPS51 subunit of GARP complex

HGNC Previous Symbol

C11orf3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
6 papers
NM_013265.4
p.R490C
c.1468C>T
6 papers
NM_013265.4
p.A744delFs
c.2232delC
5 papers
NM_013265.4
p.F474del1
c.1420_1421delTTC
5 papers
NM_013265.4
p.D745fs
c.2233_2234fs
2 papers
NM_013265.4
p.E25fs
c.73_74fs
2 papers
NM_013265.4
p.Y348C
c.1043A>G
1 paper
NM_013265.4
p.M1L
c.1A>C
1 paper
NM_013265.4
p.M1V
c.1A>G
1 paper
NM_013265.4
p.M1L
c.1A>T
1 paper
NM_013265.4
p.A3G
c.8C>G
1 paper
NM_013265.4
p.A4G
c.11C>G
1 paper
NM_013265.4
p.A4A
c.12A>T
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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."