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.R203L

c.608G>T

Surrounding Variants

3 papers

NM_017837.4

p.R203C

c.607C>T

4 papers

NM_017837.4

p.N205S

c.614A>G

3 papers

NM_017837.4

p.N205K

c.615C>A

4 papers

NM_017837.4

p.N205K

c.615C>G

1 paper

NM_017837.4

p.G201W

c.601G>T

1 paper

NM_017837.4

p.G206R

c.616G>A

1 paper

NM_017837.4

p.G206R

c.616G>C

1 paper

NM_017837.4

p.Q217*

c.649C>T

1 paper

NM_017837.4

p.R188*

c.562C>T

1 paper

NM_017837.4

p.F221I

c.661T>A

1 paper

NM_017837.4

p.L175P

c.524T>C

1 paper

NM_017837.4

p.Q233*

c.697C>T