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

3 papers

NM_024312.5

p.R334*

c.1000C>T

Surrounding Variants

8 papers

NM_024312.5

p.R334L

c.1001G>T

3 papers

NM_024312.5

p.R334P

c.1001G>C

13 papers

NM_024312.5

p.R334Q

c.1001G>A

1 paper

NM_024312.5

p.S335T

c.1003T>A

1 paper

NM_024312.5

p.Y331*

c.993C>G

1 paper

NM_024312.5

p.Y331*

c.993C>A

2 papers

NM_024312.5

p.Y331C

c.992A>G

1 paper

NM_024312.5

p.Y331delFs

c.991delA

1 paper

NM_024312.5

p.Y331fs

c.991_992fs

1 paper

NM_024312.5

p.R338delFs

c.1012delT

1 paper

NM_024312.5

p.H339fs

c.1015_1016fs

1 paper

NM_024312.5

p.H339insFs

c.1016dupA