Varaico: Literature-Extracted Genetic Variants

PIGV

92 papers

RefSeq Summary

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and...

Pfam Domains

Mannosyl_trans2aa 8–493UCSCMannosyltransferase (PIG-V)

Mannosyl_trans2aa 68–284UCSCMannosyltransferase (PIG-V)

Gene Aliases

HGNC Name

phosphatidylinositol glycan anchor biosynthesis class V

HGNC Alias Symbols

FLJ20477; PIG-V; GPI-MT-II

Papers

RefSeq ID

Protein change

DNA change

1–12 of 98 variants

32 papers

NM_017837.4

p.A341E

c.1022C>A

13 papers

NM_017837.4

p.C156Y

c.467G>A

9 papers

NM_017837.4

p.A341V

c.1022C>T

7 papers

NM_017837.4

p.L59R

c.176T>G

7 papers

NM_017837.4

p.L302P

c.905T>C

7 papers

NM_017837.4

p.L457F

c.1369C>T

6 papers

NM_017837.4

p.A165E

c.494C>A

6 papers

NM_017837.4

p.Q256K

c.766C>A

5 papers

NM_017837.4

p.H385P

c.1154A>C

5 papers

NM_017837.4

p.R469*

c.1405C>T

4 papers

NM_017837.4

p.C18Y

c.53G>A

4 papers

NM_017837.4

p.N205S

c.614A>G