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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_024312.5

p.M1insFs

c.1dupA

1 paper

NM_024312.5

p.L2L

c.4C>T

2 papers

NM_024312.5

p.L2P

c.5T>C

1 paper

NM_024312.5

p.L2Fs

c.5delinsTTGTCFs

3 papers

NM_024312.5

p.K4E

c.10A>G

19 papers

NM_024312.5

p.K4Q

c.10A>C

1 paper

NM_024312.5

p.K4T

c.11A>C

1 paper

NM_024312.5

p.L5fs

c.13_14fs

2 papers

NM_024312.5

p.L5delFs

c.13delG

6 papers

NM_024312.5

p.L6L

c.18G>A

1 paper

NM_024312.5

p.Q7*

c.19C>T

3 papers

NM_024312.5

p.R8G

c.22A>G