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

5 papers

NM_024312.5

p.K850fs

c.2548_2549fs

Surrounding Variants

4 papers

NM_024312.5

p.K848delFs

c.2544delT

1 paper

NM_024312.5

p.E849fs

c.2545_2546fs

5 papers

NM_024312.5

p.K848fs

c.2542_2543fs

1 paper

NM_024312.5

p.I852fs

c.2554_2555fs

1 paper

NM_024312.5

p.K848E

c.2542A>G

7 papers

NM_024312.5

p.K850_I852delFs

c.2550_2554del5

1 paper

NM_024312.5

p.T853I

c.2558C>T

7 papers

NM_024312.5

p.Q845*

c.2533C>T

3 papers

NM_024312.5

p.S844N

c.2531G>A

1 paper

NM_024312.5

p.E843_S844insFs

c.2529_2530insG

1 paper

NM_024312.5

p.K857_E858insA

c.2569_2573ins3

2 papers

NM_024312.5

p.N859fs

c.2575_2576fs