Varaico: Literature-Extracted Genetic Variants

Gene:VPS51
Variant:p.Y40Y

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
Selected Variant
1 paper
NM_013265.4
p.Y40Y
c.120C>T
Surrounding Variants
1 paper
NM_013265.4
p.Y40delFs
c.118delT
1 paper
NM_013265.4
p.G42G
c.126C>T
1 paper
NM_013265.4
p.E45delFs
c.133_134delGA
1 paper
NM_013265.4
p.R29Fs
c.86delinsCCFs
1 paper
NM_013265.4
p.E25fs
c.73_74fs
2 papers
NM_013265.4
p.E25fs
c.73_74fs
1 paper
NM_013265.4
p.D59E
c.177C>A
1 paper
NM_013265.4
p.D59E
c.177C>G
1 paper
NM_013265.4
p.P19R
c.56C>G
1 paper
NM_013265.4
p.P19S
c.55C>T
1 paper
NM_013265.4
p.G65E
c.194G>A
1 paper
NM_013265.4
p.G65A
c.194G>C
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