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

4 papers

NM_017837.4

p.C18Y

c.53G>A

Surrounding Variants

1 paper

NM_017837.4

p.R19C

c.55C>T

1 paper

NM_017837.4

p.R19H

c.56G>A

1 paper

NM_017837.4

p.M1R

c.2T>G

1 paper

NM_017837.4

p.M1V

c.1A>G

1 paper

NM_017837.4

p.P34A

c.100C>G

1 paper

NM_017837.4

p.P34L

c.101C>T

1 paper

NM_017837.4

p.A38fs

c.112_113fs

1 paper

NM_017837.4

p.A38_E39delFs

c.114_115delAG

1 paper

NM_017837.4

p.P43S

c.127C>T

2 papers

NM_017837.4

p.S49*

c.146C>A

2 papers

NM_017837.4

p.S49*

c.146C>G

2 papers

NM_017837.4

p.G50D

c.149G>A