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.Q94H

c.282G>C

Surrounding Variants

1 paper

NM_024312.5

p.Q94H

c.282G>T

1 paper

NM_024312.5

p.Q95insFs

c.283_284insC

1 paper

NM_024312.5

p.Q95insFs

c.285dupG

1 paper

NM_024312.5

p.R97G

c.289A>G

1 paper

NM_024312.5

p.R97_E98insFs

c.291_292insC

1 paper

NM_024312.5

p.E98insFs

c.292_293insC

1 paper

NM_024312.5

p.L90insFs

c.268dupC

1 paper

NM_024312.5

p.L90fs

c.268_269fs

4 papers

NM_024312.5

p.E88_L89del2

c.262_266del6

1 paper

NM_024312.5

p.E101E

c.303G>A

1 paper

NM_024312.5

p.E102K

c.304G>A

1 paper

NM_024312.5

p.E103K

c.307G>A