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.N1153_I1154del1

c.3458_3460delTGT

Surrounding Variants

1 paper

NM_024312.5

p.I1154fs

c.3460_3461fs

2 papers

NM_024312.5

p.D1152_N1153insFs

c.3456_3459dup4

7 papers

NM_024312.5

p.N1153S

c.3458A>G

1 paper

NM_024312.5

p.H1158fs

c.3472_3473fs

1 paper

NM_024312.5

p.L1150delFs

c.3449delA

1 paper

NM_024312.5

p.L1150fs

c.3448_3449fs

1 paper

NM_024312.5

p.L1150_N1151insTTA

c.3448_3452ins9

1 paper

NM_024312.5

p.L1150_N1151ins4

c.3448_3452ins12

4 papers

NM_024312.5

p.V1148_C1149delFs

c.3443_3446del4

4 papers

NM_024312.5

p.H1158_K1159delFs

c.3474_3475delTA

1 paper

NM_024312.5

p.V1148A

c.3443T>C

1 paper

NM_024312.5

p.V1148fs

c.3442_3443fs