Varaico: Literature-Extracted Genetic Variants

A4GALT

130 papers

RefSeq Summary

The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This ...

Pfam Domains

Gly_transf_sugaa 91–215UCSCGlycosyltransferase sugar-binding region containing DXD motif

Gb3_synthaa 222–349UCSCAlpha 1,4-glycosyltransferase conserved region

Gene Aliases

HGNC Name

alpha 1,4-galactosyltransferase

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_017436.7

p.M183fs

c.547_548fs

Surrounding Variants

9 papers

NM_017436.7

p.M183K

c.548T>A

3 papers

NM_017436.7

p.M183delFs

c.547_548delAT

3 papers

NM_017436.7

p.W184insFs

c.550_551insC

1 paper

NM_017436.7

p.A181V

c.542C>T

1 paper

NM_017436.7

p.A181T

c.541G>A

1 paper

NM_017436.7

p.R179_I180insFs

c.537_538insA

1 paper

NM_017436.7

p.R179K

c.536G>A

3 papers

NM_017436.7

p.G187R

c.559G>C

5 papers

NM_017436.7

p.G187D

c.560G>A

2 papers

NM_017436.7

p.G188S

c.562G>A

1 paper

NM_017436.7

p.V173_S175insFs

c.519_525dup7

1 paper

NM_017436.7

p.S175_D176insFs

c.525_526ins7