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.I403fs

c.1207_1208fs

Surrounding Variants

2 papers

NM_024312.5

p.F402insFs

c.1206dupT

12 papers

NM_024312.5

p.I403T

c.1208T>C

4 papers

NM_024312.5

p.Y404*

c.1212C>G

3 papers

NM_024312.5

p.Y404*

c.1212C>A

21 papers

NM_024312.5

p.S399F

c.1196C>T

3 papers

NM_024312.5

p.G397_L398insFs

c.1191_1194dup4

1 paper

NM_024312.5

p.S399A

c.1195T>G

1 paper

NM_024312.5

p.S399T

c.1195T>A

1 paper

NM_024312.5

p.S399fs

c.1195_1196fs

9 papers

NM_024312.5

p.D407A

c.1220A>C

5 papers

NM_024312.5

p.D408N

c.1222G>A

3 papers

NM_024312.5

p.D408A

c.1223A>C