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.S654T

c.1961G>C

Surrounding Variants

1 paper

NM_024312.5

p.V653_S654delFs

c.1959_1960delTA

3 papers

NM_024312.5

p.S654fs

c.1960_1961fs

3 papers

NM_024312.5

p.V653_S654delFs

c.1959_1962del4

4 papers

NM_024312.5

p.P655delFs

c.1964delG

2 papers

NM_024312.5

p.L652_P655del4

c.1954_1964del12

2 papers

NM_024312.5

p.G648_N651del4

c.1942_1952del12

1 paper

NM_024312.5

p.S654_T657del4

c.1960_1970del12

3 papers

NM_024312.5

p.E650K

c.1948G>A

1 paper

NM_024312.5

p.Y649*

c.1947C>G

1 paper

NM_024312.5

p.Y649insFs

c.1946dupA

1 paper

NM_024312.5

p.Y649*

c.1947C>A

1 paper

NM_024312.5

p.I656_L659del4

c.1966_1976del12