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.L889*

c.2666T>A

Surrounding Variants

1 paper

NM_024312.5

p.G890_F891insT

c.2668_2672ins3

1 paper

NM_024312.5

p.G890_F891insT*

c.2668_2672ins6

1 paper

NM_024312.5

p.G890R

c.2668G>C

4 papers

NM_024312.5

p.Y888*

c.2664C>G

4 papers

NM_024312.5

p.Y888*

c.2664C>A

4 papers

NM_024312.5

p.S887insFs

c.2659dupA

1 paper

NM_024312.5

p.S887fs

c.2659_2660fs

3 papers

NM_024312.5

p.L892fs

c.2674_2675fs

1 paper

NM_024312.5

p.L892insFs

c.2675dupT

1 paper

NM_024312.5

p.P893fs

c.2677_2678fs

8 papers

NM_024312.5

p.W894*

c.2681G>A

8 papers

NM_024312.5

p.W894*

c.2682G>A