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

1–12 of 904 variants

67 papers

NM_024312.5

p.L1168delFs

c.3503_3504delGA

30 papers

NM_024312.5

p.R364*

c.1090C>T

28 papers

NM_024312.5

p.R1189*

c.3565C>T

21 papers

NM_024312.5

p.S399F

c.1196C>T

21 papers

NM_024312.5

p.D905_E906Splc

c.2715+1G>A

21 papers

NM_024312.5

p.L1168fs

c.3502_3503fs

20 papers

NM_024312.5

p.E1200K

c.3598G>A

19 papers

NM_024312.5

p.K4Q

c.10A>C

15 papers

NM_024312.5

p.F374L

c.1120T>C

13 papers

NM_024312.5

p.Q104*

c.310C>T

13 papers

NM_024312.5

p.R334Q

c.1001G>A

12 papers

NM_024312.5

p.I403T

c.1208T>C