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

3 papers

NM_017837.4

p.Y285C

c.854A>G

Surrounding Variants

1 paper

NM_017837.4

p.P293L

c.878C>T

1 paper

NM_017837.4

p.I272V

c.814A>G

1 paper

NM_017837.4

p.R270H

c.809G>A

7 papers

NM_017837.4

p.L302P

c.905T>C

1 paper

NM_017837.4

p.I307N

c.920T>A

6 papers

NM_017837.4

p.Q256K

c.766C>A

1 paper

NM_017837.4

p.N327S

c.980A>G

1 paper

NM_017837.4

p.L337insFs

c.1010dupT

1 paper

NM_017837.4

p.Q233*

c.697C>T

1 paper

NM_017837.4

p.V338fs

c.1012_1013fs

32 papers

NM_017837.4

p.A341E

c.1022C>A

9 papers

NM_017837.4

p.A341V

c.1022C>T