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.R587Q

c.1760G>A

Surrounding Variants

9 papers

NM_024312.5

p.R587P

c.1760G>C

10 papers

NM_024312.5

p.R587*

c.1759C>T

2 papers

NM_024312.5

p.H588fs

c.1762_1763fs

2 papers

NM_024312.5

p.H588insFs

c.1763dupA

1 paper

NM_024312.5

p.H588Q

c.1764T>G

1 paper

NM_024312.5

p.H588Q

c.1764T>A

4 papers

NM_024312.5

p.P584T

c.1750C>A

1 paper

NM_024312.5

p.N583S

c.1748A>G

8 papers

NM_024312.5

p.A592T

c.1774G>A

1 paper

NM_024312.5

p.A592V

c.1775C>T

1 paper

NM_024312.5

p.N593fs

c.1777_1778fs

1 paper

NM_024312.5

p.N593I

c.1778A>T