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.H391Q

c.1173C>A

Surrounding Variants

1 paper

NM_024312.5

p.H391Q

c.1173C>G

1 paper

NM_024312.5

p.H379_H391del13

c.1135_1172del39

2 papers

NM_024312.5

p.H393R

c.1178A>G

1 paper

NM_024312.5

p.H379_I392del14

c.1135_1175del42

1 paper

NM_024312.5

p.E389A

c.1166A>C

1 paper

NM_024312.5

p.R394L

c.1181G>T

1 paper

NM_024312.5

p.R394P

c.1181G>C

4 papers

NM_024312.5

p.E389K

c.1165G>A

1 paper

NM_024312.5

p.I395V

c.1183A>G

1 paper

NM_024312.5

p.I395S

c.1184T>G

1 paper

NM_024312.5

p.E396Q

c.1186G>C

1 paper

NM_024312.5

p.A387V

c.1160C>T