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

3 papers

NM_024312.5

p.F625L

c.1873T>C

Surrounding Variants

7 papers

NM_024312.5

p.F625L

c.1875C>G

3 papers

NM_024312.5

p.F625L

c.1875C>A

2 papers

NM_024312.5

p.T616_N619del4

c.1846_1856del12

1 paper

NM_024312.5

p.F625_I629del5

c.1873_1886del15

1 paper

NM_024312.5

p.N619K

c.1857T>G

1 paper

NM_024312.5

p.N619K

c.1857T>A

2 papers

NM_024312.5

p.N619_T620insT

c.1855_1859ins3

1 paper

NM_024312.5

p.E632Q

c.1894G>C

1 paper

NM_024312.5

p.T616M

c.1847C>T

1 paper

NM_024312.5

p.R636fs

c.1906_1907fs

1 paper

NM_024312.5

p.R636insFs

c.1906dupA

4 papers

NM_024312.5

p.T635_R636delFs

c.1905_1908del4