Varaico: Literature-Extracted Genetic Variants

VPS29

50 papers

RefSeq Summary

This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a comp...

Pfam Domains

Metallophos_2aa 1–158UCSCCalcineurin-like phosphoesterase superfamily domain

Metallophos_2aa 34–190UCSCCalcineurin-like phosphoesterase superfamily domain

Gene Aliases

HGNC Name

VPS29 retromer complex component

HGNC Alias Symbols

PEP11; DC7; DC15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016226.5

p.V74I

c.220G>A

Surrounding Variants

3 papers

NM_016226.5

p.V75L

c.223G>T

1 paper

NM_016226.5

p.Q79L

c.236A>T

1 paper

NM_057180.3

p.N72H

c.214A>C

3 papers

NM_016226.5

p.G87*

c.259G>T

4 papers

NM_016226.5

p.V90D

c.269T>A

4 papers

NM_016226.5

p.I91S

c.272T>G

1 paper

NM_016226.5

p.P92S

c.274C>T

3 papers

NM_016226.5

p.G94R

c.280G>A

3 papers

NM_016226.5

p.S98C

c.292A>T

3 papers

NM_016226.5

p.F128L

c.382T>C

1 paper

NM_016226.5

p.L142W

c.425T>G

1 paper

NM_016226.5

p.T144I

c.431C>T