Varaico: Literature-Extracted Genetic Variants

Gene:LALBA
Variant:p.I46V

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.I46V
c.136A>G
Surrounding Variants
1 paper
NM_002289.3
p.M49K
c.146T>A
1 paper
NM_002289.3
p.H51Y
c.151C>T
1 paper
NM_002289.3
p.T52I
c.155C>T
3 papers
NM_002289.3
p.I60V
c.178A>G
1 paper
NM_002289.3
p.V61G
c.182T>G
1 paper
NM_002289.3
p.V61A
c.182T>C
1 paper
NM_002289.3
p.S66N
c.197G>A
1 paper
NM_002289.3
p.G70A
c.209G>C
1 paper
NM_002289.3
p.L71P
c.212T>C
1 paper
NM_002289.3
p.F72L
c.214T>C
1 paper
NM_002289.3
p.I74V
c.220A>G
1 paper
NM_002289.3
p.N76D
c.226A>G
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