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.R375fs

c.1123_1124fs

Surrounding Variants

10 papers

NM_024312.5

p.R375*

c.1123C>T

11 papers

NM_024312.5

p.F374L

c.1122T>G

11 papers

NM_024312.5

p.F374L

c.1122T>A

15 papers

NM_024312.5

p.F374L

c.1120T>C

1 paper

NM_024312.5

p.L380V

c.1138T>G

2 papers

NM_024312.5

p.N376_H379del4

c.1126_1136del12

1 paper

NM_024312.5

p.P381L

c.1142C>T

4 papers

NM_024312.5

p.T382P

c.1144A>C

1 paper

NM_024312.5

p.S384ins1

c.1150_1151insTTA

1 paper

NM_024312.5

p.F383_S384ins0

c.1148_1150dupTTA

6 papers

NM_024312.5

p.S385L

c.1154C>T

1 paper

NM_024312.5

p.A387V

c.1160C>T