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.V698V

c.2094A>G

Surrounding Variants

1 paper

NM_024312.5

p.N699S

c.2096A>G

3 papers

NM_024312.5

p.L697fs

c.2089_2090fs

4 papers

NM_024312.5

p.L697insFs

c.2089_2090insC

1 paper

NM_024312.5

p.L697R

c.2090T>G

1 paper

NM_024312.5

p.L697fs

c.2089_2090fs

1 paper

NM_024312.5

p.R688_K694delins

c.2063_2082delinsGCGTG

1 paper

NM_024312.5

p.K694T

c.2081A>C

1 paper

NM_024312.5

p.E692*

c.2074G>T

1 paper

NM_024312.5

p.E692fs

c.2074_2075fs

1 paper

NM_024312.5

p.E691insFs

c.2072_2073insG

1 paper

NM_024312.5

p.E691K

c.2071G>A

2 papers

NM_024312.5

p.A707T

c.2119G>A