Varaico: Literature-Extracted Genetic Variants

GNPTAB

347 papers

RefSeq Summary

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. T...

Pfam Domains

Stealth_CR1aa 73–101UCSCStealth protein CR1, conserved region 1

GlcNAc-1_regaa 218–305UCSCPutative GlcNAc-1 phosphotransferase regulatory domain

Stealth_CR2aa 322–429UCSCStealth protein CR2, conserved region 2

Notchaa 435–469UCSCLNR domain

Notchaa 502–536UCSCLNR domain

Ig_GNPTABaa 541–635UCSCGNPTAB, immunoglobulin-like domain

Gene Aliases

HGNC Name

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

HGNC Previous Symbol

GNPTA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024312.5

p.Y555S

c.1664A>C

Surrounding Variants

2 papers

NM_024312.5

p.I557L

c.1669A>C

1 paper

NM_024312.5

p.T553I

c.1658C>T

1 paper

NM_024312.5

p.I557del1

c.1669_1670delAAT

1 paper

NM_024312.5

p.P564R

c.1691C>G

1 paper

NM_024312.5

p.K545delFs

c.1634_1635delTT

1 paper

NM_024312.5

p.K545fs

c.1633_1634fs

1 paper

NM_024312.5

p.F566L

c.1696T>C

1 paper

NM_024312.5

p.F566L

c.1698C>G

1 paper

NM_024312.5

p.F566L

c.1698C>A

1 paper

NM_024312.5

p.F568fs

c.1702_1703fs

2 papers

NM_024312.5

p.S567delFs

c.1701delG

2 papers

NM_024312.5

p.E542insFs

c.1625_1626insC