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.R344Q

c.1031G>A

Surrounding Variants

1 paper

NM_024312.5

p.R344W

c.1030C>T

3 papers

NM_024312.5

p.R344_N345del2

c.1030_1034del6

2 papers

NM_024312.5

p.P341del1

c.1021_1023delTGG

4 papers

NM_024312.5

p.P341delFs

c.1022delG

3 papers

NM_024312.5

p.H339_A340insFs

c.1017_1020dup4

1 paper

NM_024312.5

p.P341fs

c.1021_1022fs

8 papers

NM_024312.5

p.I348L

c.1042A>C

1 paper

NM_024312.5

p.H339insFs

c.1016dupA

1 paper

NM_024312.5

p.H339fs

c.1015_1016fs

4 papers

NM_024312.5

p.F347_V349del3

c.1039_1046del9

1 paper

NM_024312.5

p.R338delFs

c.1012delT

1 paper

NM_024312.5

p.N351fs

c.1051_1052fs