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

Selected Variant

13 papers

NM_017837.4

p.C156Y

c.467G>A

Surrounding Variants

1 paper

NM_017837.4

p.S158_N161del4

c.472_482del12

1 paper

NM_017837.4

p.F155fs

c.463_464fs

1 paper

NM_017837.4

p.F155_C156delFs

c.465_466delCT

1 paper

NM_017837.4

p.S158N

c.473G>A

1 paper

NM_017837.4

p.N161S

c.482A>G

2 papers

NM_017837.4

p.A151V

c.452C>T

1 paper

NM_017837.4

p.F149_Y150delFs

c.445_448del4

6 papers

NM_017837.4

p.A165E

c.494C>A

1 paper

NM_017837.4

p.A165V

c.494C>T

3 papers

NM_017837.4

p.Q147*

c.439C>T

1 paper

NM_017837.4

p.Q147insFs

c.439dupC

1 paper

NM_017837.4

p.G167S

c.499G>A