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.H207H

c.621C>T

Surrounding Variants

1 paper

NM_002299.4

p.T194T

c.582C>T

1 paper

NM_002299.4

p.L192F

c.574C>T

1 paper

NM_002299.4

p.E177K

c.529G>A

1 paper

NM_002299.4

p.A158T

c.472G>A

1 paper

NM_002299.4

p.D149H

c.445G>C

1 paper

NM_002299.4

p.R142Q

c.425G>A

1 paper

NM_002299.4

p.L125H

c.374T>A

1 paper

NM_002299.4

p.K121Q

c.361A>C

2 papers

NM_002299.4

p.S101G

c.301A>G

1 paper

NM_002299.4

p.W93R

c.277T>A

1 paper

NM_002299.4

p.K88N

c.264G>T

1 paper

NM_002299.4

p.K88N

c.264G>C