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

20 papers

NM_024312.5

p.E1200K

c.3598G>A

Surrounding Variants

1 paper

NM_024312.5

p.W1201fs

c.3601_3602fs

3 papers

NM_024312.5

p.W1201*

c.3602G>A

1 paper

NM_024312.5

p.E1197K

c.3589G>A

1 paper

NM_024312.5

p.F1192S

c.3575T>C

4 papers

NM_024312.5

p.R1191H

c.3572G>A

4 papers

NM_024312.5

p.R1191C

c.3571C>T

2 papers

NM_024312.5

p.R1189insFs

c.3566_3567insA

2 papers

NM_024312.5

p.R1189Q

c.3566G>A

28 papers

NM_024312.5

p.R1189*

c.3565C>T

2 papers

NM_024312.5

p.R1189insFs

c.3565_3566insA

1 paper

NM_024312.5

p.R1189fs

c.3565_3566fs

1 paper

NM_024312.5

p.Y1188*

c.3564T>G