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

30 papers

NM_024312.5

p.R364*

c.1090C>T

Surrounding Variants

2 papers

NM_024312.5

p.R364Q

c.1091G>A

1 paper

NM_024312.5

p.V365L

c.1093G>T

1 paper

NM_024312.5

p.V365L

c.1093G>C

1 paper

NM_024312.5

p.V365delFs

c.1093delC

1 paper

NM_024312.5

p.N359K

c.1077C>G

1 paper

NM_024312.5

p.N359K

c.1077C>A

6 papers

NM_024312.5

p.W357*

c.1071G>A

4 papers

NM_024312.5

p.W357*

c.1070G>A

1 paper

NM_024312.5

p.Q371*

c.1111C>T

1 paper

NM_024312.5

p.Q371R

c.1112A>G

2 papers

NM_024312.5

p.Q353L

c.1058A>T

2 papers

NM_024312.5

p.N351insFs

c.1052dupA