Varaico: Literature-Extracted Genetic Variants

Gene:LALBA
Variant:p.L45Splc

LALBA

58 papers

RefSeq Summary

This gene encodes alpha-lactalbumin, a principal protein of milk. Alpha-lactalbumin forms the regulatory subunit of the lactose synthase (LS) heterodimer and beta 1,4-galactosyltransferase (beta4Gal-T...

Pfam Domains

Lysaa 20–139UCSCC-type lysozyme/alpha-lactalbumin family

Gene Aliases

HGNC Name

lactalbumin alpha

HGNC Alias Symbols

LYZL7; LYZG; HAMLET

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002289.3
p.L45Splc
c.133+13C>T
Surrounding Variants
1 paper
NM_002289.3
p.A41T
c.121G>A
1 paper
NM_002289.3
p.G38E
c.113G>A
1 paper
NM_002289.3
p.D35V
c.104A>T
2 papers
NM_002289.3
p.L27P
c.80T>C
1 paper
NM_002289.3
p.E26K
c.76G>A
1 paper
NM_002289.3
p.A16T
c.46G>A
1 paper
NM_002289.3
p.G11A
c.32G>C
1 paper
NM_002289.3
p.G11S
c.31G>A
1 paper
NM_002289.3
p.L9M
c.25C>A
1 paper
NM_002289.3
p.F3Y
c.8T>A
1 paper
NM_002289.3
p.I46V
c.136A>G
1 paper
NM_002289.3
p.M49K
c.146T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."