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

7 papers

NM_017837.4

p.L59R

c.176T>G

Surrounding Variants

1 paper

NM_017837.4

p.G62S

c.184G>A

2 papers

NM_017837.4

p.Q54H

c.162A>C

2 papers

NM_017837.4

p.Q54H

c.162A>T

1 paper

NM_017837.4

p.Q54fs

c.160_161fs

1 paper

NM_017837.4

p.D53_Q54delFs

c.158_161del4

1 paper

NM_017837.4

p.W66*

c.197G>A

1 paper

NM_017837.4

p.W66*

c.198G>A

1 paper

NM_017837.4

p.D67N

c.199G>A

2 papers

NM_017837.4

p.G50D

c.149G>A

2 papers

NM_017837.4

p.S49*

c.146C>A

2 papers

NM_017837.4

p.S49*

c.146C>G

1 paper

NM_017837.4

p.A75T

c.223G>A