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.A418D

c.1253C>A

Surrounding Variants

1 paper

NM_017837.4

p.P426L

c.1277C>T

1 paper

NM_017837.4

p.S408T

c.1222T>A

1 paper

NM_017837.4

p.R429T

c.1286G>C

1 paper

NM_017837.4

p.E441A

c.1322A>C

1 paper

NM_017837.4

p.P445_K448del4

c.1333_1343del12

7 papers

NM_017837.4

p.L457F

c.1369C>T

1 paper

NM_017837.4

p.W461*

c.1382G>A

1 paper

NM_017837.4

p.W461*

c.1383G>A

1 paper

NM_017837.4

p.K462_T463delFs

c.1386_1387delAA

1 paper

NM_017837.4

p.K462fs

c.1384_1385fs

1 paper

NM_017837.4

p.K462R

c.1385A>G

1 paper

NM_017837.4

p.S465F

c.1394C>T