Varaico: Literature-Extracted Genetic Variants

LCT

199 papers

RefSeq Summary

The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral t...

Pfam Domains

Glyco_hydro_1aa 74–227UCSCGlycosyl hydrolase family 1

Glyco_hydro_1aa 378–847UCSCGlycosyl hydrolase family 1

Glyco_hydro_1aa 899–1364UCSCGlycosyl hydrolase family 1

Glyco_hydro_1aa 1373–1840UCSCGlycosyl hydrolase family 1

Gene Aliases

HGNC Name

lactase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002299.4

p.E23K

c.67G>A

Surrounding Variants

1 paper

NM_002299.4

p.S16L

c.47C>T

1 paper

NM_002299.4

p.A32S

c.94G>T

2 papers

NM_002299.4

p.G33S

c.97G>A

1 paper

NM_002299.4

p.L12Q

c.35T>A

1 paper

NM_002299.4

p.I10T

c.29T>C

1 paper

NM_002299.4

p.N42S

c.125A>G

1 paper

NM_002299.4

p.M1I

c.3G>A

1 paper

NM_002299.4

p.G45D

c.134G>A

1 paper

NM_002299.4

p.N53I

c.158A>T

1 paper

NM_002299.4

p.N53N

c.159C>T

1 paper

NM_002299.4

p.L68insFs

c.203_204insC

1 paper

NM_002299.4

p.F71L

c.211T>C