Varaico: Literature-Extracted Genetic Variants

Gene:VPS51
Variant:p.S690T

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.S690T
c.2069G>C
Surrounding Variants
1 paper
NM_013265.4
p.A668S
c.2002G>T
1 paper
NM_013265.4
p.S654S
c.1962T>G
1 paper
NM_013265.4
p.S643S
c.1929C>T
1 paper
NM_013265.4
p.K637R
c.1910A>G
1 paper
NM_013265.4
p.V635V
c.1905T>A
1 paper
NM_013265.4
p.E633Q
c.1897G>C
1 paper
NM_013265.4
p.I706S
c.2117T>G
6 papers
NM_013265.4
p.A744delFs
c.2232delC
5 papers
NM_013265.4
p.D745fs
c.2233_2234fs
1 paper
NM_013265.4
p.M613L
c.1837A>C
1 paper
NM_013265.4
p.M613L
c.1837A>T
1 paper
NM_013265.4
p.R569W
c.1705A>T
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