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

2 papers

NM_024312.5

p.C70S

c.208T>A

Surrounding Variants

2 papers

NM_024312.5

p.C70S

c.209G>C

1 paper

NM_024312.5

p.L69fs

c.205_206fs

2 papers

NM_024312.5

p.R68Q

c.203G>A

3 papers

NM_024312.5

p.R68W

c.202C>T

1 paper

NM_024312.5

p.P74S

c.220C>T

1 paper

NM_024312.5

p.P74L

c.221C>T

1 paper

NM_024312.5

p.P74delFs

c.221delG

2 papers

NM_024312.5

p.D76G

c.227A>G

1 paper

NM_024312.5

p.V77L

c.229G>C

1 paper

NM_024312.5

p.V77I

c.229G>A

1 paper

NM_024312.5

p.V78G

c.233T>G

1 paper

NM_024312.5

p.P72_V78delFs

c.216_232del17