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

2 papers

NM_002299.4

p.R689C

c.2065C>T

Surrounding Variants

6 papers

NM_002299.4

p.S688P

c.2062T>C

1 paper

NM_002299.4

p.G707R

c.2119G>C

1 paper

NM_002299.4

p.G707R

c.2119G>A

1 paper

NM_002299.4

p.H712delFs

c.2135delT

1 paper

NM_002299.4

p.P664A

c.1990C>G

1 paper

NM_002299.4

p.W717C

c.2151G>T

1 paper

NM_002299.4

p.R654K

c.1961G>A

1 paper

NM_002299.4

p.V728_P729insFs

c.2184_2185insA

1 paper

NM_002299.4

p.D604E

c.1812C>G

1 paper

NM_002299.4

p.D604E

c.1812C>A

1 paper

NM_002299.4

p.D604Y

c.1810G>T

1 paper

NM_002299.4

p.D604N

c.1810G>A