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

1–12 of 37 variants

4 papers

NM_016226.5

p.K30I

c.89A>T

4 papers

NM_016226.5

p.V90D

c.269T>A

4 papers

NM_016226.5

p.I91S

c.272T>G

3 papers

NM_016226.5

p.V3M

c.7G>A

3 papers

NM_016226.5

p.P19L

c.56C>T

3 papers

NM_016226.5

p.H33R

c.98A>G

3 papers

NM_016226.5

p.G38G

c.114A>G

3 papers

NM_016226.5

p.N39H

c.115A>C

3 papers

NM_016226.5

p.E44D

c.132G>C

3 papers

NM_016226.5

p.T51A

c.151A>G

3 papers

NM_016226.5

p.E65K

c.193G>A

3 papers

NM_016226.5

p.V74I

c.220G>A