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

7 papers

NM_024312.5

p.S321G

c.961A>G

Surrounding Variants

1 paper

NM_024312.5

p.R322C

c.964C>T

1 paper

NM_024312.5

p.R322S

c.964C>A

2 papers

NM_024312.5

p.I318N

c.953T>A

1 paper

NM_024312.5

p.N326delFs

c.976delT

1 paper

NM_024312.5

p.E327K

c.979G>A

3 papers

NM_024312.5

p.Q314*

c.940C>T

1 paper

NM_024312.5

p.S312fs

c.934_935fs

1 paper

NM_024312.5

p.Y331fs

c.991_992fs

2 papers

NM_024312.5

p.Y331C

c.992A>G

1 paper

NM_024312.5

p.Y331delFs

c.991delA

1 paper

NM_024312.5

p.Y331*

c.993C>G

1 paper

NM_024312.5

p.Y331*

c.993C>A