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.F127S

c.380T>C

Surrounding Variants

2 papers

NM_017837.4

p.I117V

c.349A>G

1 paper

NM_017837.4

p.L116_I117delins

c.348_349delinsAG

1 paper

NM_017837.4

p.C114_L115del2

c.340_344del6

1 paper

NM_017837.4

p.S110N

c.329G>A

1 paper

NM_017837.4

p.Q147insFs

c.439dupC

3 papers

NM_017837.4

p.Q147*

c.439C>T

1 paper

NM_017837.4

p.F149_Y150delFs

c.445_448del4

2 papers

NM_017837.4

p.A151V

c.452C>T

1 paper

NM_017837.4

p.F155fs

c.463_464fs

1 paper

NM_017837.4

p.F155_C156delFs

c.465_466delCT

13 papers

NM_017837.4

p.C156Y

c.467G>A

1 paper

NM_017837.4

p.S158_N161del4

c.472_482del12