Varaico: Literature-Extracted Genetic Variants

Gene:VPS51
Variant:p.C421F

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.C421F
c.1262G>T
Surrounding Variants
1 paper
NM_013265.4
p.T423fs
c.1267_1268fs
1 paper
NM_013265.4
p.A416_A417insFs
c.1248_1249ins13
1 paper
NM_013265.4
p.Q412R
c.1235A>G
1 paper
NM_013265.4
p.G436R
c.1306G>A
1 paper
NM_013265.4
p.K437M
c.1310A>T
1 paper
NM_013265.4
p.A392S
c.1174G>T
1 paper
NM_013265.4
p.A384D
c.1151C>A
1 paper
NM_013265.4
p.T468T
c.1404C>T
5 papers
NM_013265.4
p.F474del1
c.1420_1421delTTC
1 paper
NM_013265.4
p.R481_G482Splc
c.1443+4C>T
2 papers
NM_013265.4
p.Y348C
c.1043A>G
1 paper
NM_013265.4
p.R342Q
c.1025G>A
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