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.L725*

c.2174T>A

Surrounding Variants

1 paper

NM_024312.5

p.Y728delFs

c.2184delG

3 papers

NM_024312.5

p.L730Fs

c.2188delinsAAAFs

1 paper

NM_024312.5

p.L730fs

c.2188_2189fs

1 paper

NM_024312.5

p.L730fs

c.2188_2189fs

3 papers

NM_024312.5

p.L730delFs

c.2189delA

10 papers

NM_024312.5

p.K732N

c.2196G>T

10 papers

NM_024312.5

p.K732N

c.2196G>C

1 paper

NM_024312.5

p.S710_N712delFs

c.2128_2134del7

2 papers

NM_024312.5

p.S738*

c.2213C>G

5 papers

NM_024312.5

p.S738*

c.2213C>A

2 papers

NM_024312.5

p.S710fs

c.2128_2129fs

2 papers

NM_024312.5

p.M741fs

c.2221_2222fs