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.G638_P639del2

c.1912_1916del6

Surrounding Variants

2 papers

NM_024312.5

p.N642fs

c.1924_1925fs

4 papers

NM_024312.5

p.T635_R636delFs

c.1905_1908del4

2 papers

NM_024312.5

p.T635_R636del2

c.1903_1907del6

3 papers

NM_024312.5

p.E637fs

c.1909_1910fs

2 papers

NM_024312.5

p.N642_S643delFs

c.1924_1927del4

1 paper

NM_024312.5

p.R636insFs

c.1906dupA

1 paper

NM_024312.5

p.R636fs

c.1906_1907fs

3 papers

NM_024312.5

p.T644I

c.1931C>T

8 papers

NM_024312.5

p.T644T

c.1932A>G

1 paper

NM_024312.5

p.T644delins

c.1931_1932delinsTG

1 paper

NM_024312.5

p.E632Q

c.1894G>C

3 papers

NM_024312.5

p.G648D

c.1943G>A