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.E757fs

c.2269_2270fs

Surrounding Variants

1 paper

NM_024312.5

p.E757K

c.2269G>A

3 papers

NM_024312.5

p.E757_T758delFs

c.2269_2273del5

1 paper

NM_024312.5

p.N759delFs

c.2275delT

1 paper

NM_024312.5

p.N759delFs

c.2275_2276delTT

1 paper

NM_024312.5

p.T755_N759del5

c.2263_2276del15

1 paper

NM_024312.5

p.D760fs

c.2278_2279fs

2 papers

NM_024312.5

p.D760delFs

c.2279_2280delGT

1 paper

NM_024312.5

p.N750_Q751delFs

c.2250_2253del4

3 papers

NM_024312.5

p.N750insFs

c.2249dupA

1 paper

NM_024312.5

p.N750K

c.2250T>G

1 paper

NM_024312.5

p.N750K

c.2250T>A

2 papers

NM_024312.5

p.N750fs

c.2248_2249fs