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

4 papers

NM_024312.5

p.T30fs

c.88_89fs

Surrounding Variants

1 paper

NM_024312.5

p.T30fs

c.88_89fs

5 papers

NM_024312.5

p.T30delFs

c.88_89delGT

3 papers

NM_024312.5

p.V28D

c.83T>A

1 paper

NM_024312.5

p.V28I

c.82G>A

2 papers

NM_024312.5

p.V27D

c.80T>A

4 papers

NM_024312.5

p.G26D

c.77G>A

4 papers

NM_024312.5

p.A34P

c.100G>C

6 papers

NM_024312.5

p.S33delFs

c.99delG

6 papers

NM_024312.5

p.A34fs

c.100_101fs

1 paper

NM_024312.5

p.A34V

c.101C>T

4 papers

NM_024312.5

p.F24V

c.70T>G

1 paper

NM_024312.5

p.C23insFs

c.68dupG