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.S773R

c.2317A>C

Surrounding Variants

3 papers

NM_024312.5

p.S773I

c.2318G>T

3 papers

NM_024312.5

p.S773R

c.2319C>G

3 papers

NM_024312.5

p.S773R

c.2319C>A

1 paper

NM_024312.5

p.K772*

c.2314A>T

1 paper

NM_024312.5

p.S773_P776del4

c.2317_2327del12

1 paper

NM_024312.5

p.Q766*

c.2296C>T

2 papers

NM_024312.5

p.V781M

c.2341G>A

4 papers

NM_024312.5

p.S782F

c.2345C>T

2 papers

NM_024312.5

p.D760delFs

c.2279_2280delGT

8 papers

NM_024312.5

p.L785W

c.2354T>G

1 paper

NM_024312.5

p.L785F

c.2355G>T

1 paper

NM_024312.5

p.L785F

c.2355G>C