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.N865fs

c.2593_2594fs

Surrounding Variants

6 papers

NM_024312.5

p.E864insFs

c.2591_2592insG

4 papers

NM_024312.5

p.E864fs

c.2590_2591fs

2 papers

NM_024312.5

p.R861K

c.2582G>A

5 papers

NM_024312.5

p.E858_N859delFs

c.2574_2575delTC

1 paper

NM_024312.5

p.G871S

c.2611G>A

2 papers

NM_024312.5

p.N859fs

c.2575_2576fs

1 paper

NM_024312.5

p.G871G

c.2613C>T

1 paper

NM_024312.5

p.V872fs

c.2614_2615fs

1 paper

NM_024312.5

p.V872delFs

c.2614delC

1 paper

NM_024312.5

p.K857_E858insA

c.2569_2573ins3

1 paper

NM_024312.5

p.T853I

c.2558C>T

7 papers

NM_024312.5

p.K850_I852delFs

c.2550_2554del5