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.V82_N83insFs

c.244_247dup4

Surrounding Variants

1 paper

NM_024312.5

p.V82delFs

c.244delC

2 papers

NM_024312.5

p.T80_W81del0

c.238_243del6

2 papers

NM_024312.5

p.G84G

c.252C>G

1 paper

NM_024312.5

p.G84insFs

c.251dupG

1 paper

NM_024312.5

p.T85fs

c.253_254fs

9 papers

NM_024312.5

p.W81L

c.242G>T

1 paper

NM_024312.5

p.Y79delFs

c.235delA

3 papers

NM_024312.5

p.V78del1

c.232_233delAAC

2 papers

NM_024312.5

p.Y79fs

c.235_236fs

1 paper

NM_024312.5

p.V78G

c.233T>G

1 paper

NM_024312.5

p.P72_V78delFs

c.216_232del17

1 paper

NM_024312.5

p.V77L

c.229G>C