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

1 paper

NM_017837.4

p.A38_E39delFs

c.114_115delAG

Surrounding Variants

1 paper

NM_017837.4

p.A38fs

c.112_113fs

1 paper

NM_017837.4

p.P34L

c.101C>T

1 paper

NM_017837.4

p.P34A

c.100C>G

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

1 paper

NM_017837.4

p.D53_Q54delFs

c.158_161del4

1 paper

NM_017837.4

p.Q54fs

c.160_161fs

2 papers

NM_017837.4

p.Q54H

c.162A>C

2 papers

NM_017837.4

p.Q54H

c.162A>T

7 papers

NM_017837.4

p.L59R

c.176T>G