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.K428R

c.1283A>G

Surrounding Variants

8 papers

NM_024312.5

p.K428_V429Splc

c.1284+1G>T

1 paper

NM_024312.5

p.K428_V429Splc

c.1284+1G>A

1 paper

NM_024312.5

p.G426S

c.1276G>A

1 paper

NM_024312.5

p.H423Y

c.1267C>T

2 papers

NM_024312.5

p.S422C

c.1264A>T

1 paper

NM_024312.5

p.Y421S

c.1262A>C

2 papers

NM_024312.5

p.D418G

c.1253A>G

1 paper

NM_024312.5

p.D418A

c.1253A>C

3 papers

NM_024312.5

p.W416*

c.1248G>A

3 papers

NM_024312.5

p.W416*

c.1247G>A

3 papers

NM_024312.5

p.D414A

c.1241A>C

1 paper

NM_024312.5

p.M410K

c.1229T>A