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

21 papers

NM_024312.5

p.D905_E906Splc

c.2715+1G>A

Surrounding Variants

3 papers

NM_024312.5

p.D905_E906Splc

c.2715+2T>G

1 paper

NM_024312.5

p.D905N

c.2713G>A

1 paper

NM_024312.5

p.L904del1

c.2710_2711delGAG

1 paper

NM_024312.5

p.L903_L904del1

c.2708_2710delGAA

1 paper

NM_024312.5

p.Q901*

c.2701C>T

1 paper

NM_024312.5

p.Y899fs

c.2695_2696fs

5 papers

NM_024312.5

p.Y899fs

c.2695_2696fs

2 papers

NM_024312.5

p.K898fs

c.2692_2693fs

6 papers

NM_024312.5

p.K898insFs

c.2693dupA

8 papers

NM_024312.5

p.K898delFs

c.2693delT

4 papers

NM_024312.5

p.K898fs

c.2692_2693fs

1 paper

NM_024312.5

p.K896fs

c.2686_2687fs