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

67 papers

NM_024312.5

p.L1168delFs

c.3503_3504delGA

Surrounding Variants

10 papers

NM_024312.5

p.L1168fs

c.3502_3503fs

21 papers

NM_024312.5

p.L1168fs

c.3502_3503fs

1 paper

NM_024312.5

p.F1171L

c.3511T>C

1 paper

NM_024312.5

p.F1171L

c.3513C>G

1 paper

NM_024312.5

p.F1171L

c.3513C>A

1 paper

NM_024312.5

p.V1164_K1165del2

c.3490_3494del6

1 paper

NM_024312.5

p.Y1172C

c.3515A>G

1 paper

NM_024312.5

p.Y1172Y

c.3516T>C

3 papers

NM_024312.5

p.T1163_V1164delFs

c.3487_3490del4

2 papers

NM_024312.5

p.T1163delFs

c.3488delG

1 paper

NM_024312.5

p.Q1162_T1163insFs

c.3486_3487dupGA

1 paper

NM_024312.5

p.M1175fs

c.3523_3524fs