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.G1275R

c.3823G>A

Surrounding Variants

1 paper

NM_002299.4

p.G1275R

c.3823G>C

1 paper

NM_002299.4

p.T1279I

c.3836C>T

1 paper

NM_002299.4

p.D1285Y

c.3853G>T

1 paper

NM_002299.4

p.D1287G

c.3860A>G

1 paper

NM_002299.4

p.I1289V

c.3865A>G

1 paper

NM_002299.4

p.E1234E

c.3702G>A

1 paper

NM_002299.4

p.S1225F

c.3674C>T

1 paper

NM_002299.4

p.D1202E

c.3606C>G

1 paper

NM_002299.4

p.D1202E

c.3606C>A

1 paper

NM_002299.4

p.T1200M

c.3599C>T

1 paper

NM_002299.4

p.S1184F

c.3551C>T

1 paper

NM_002299.4

p.Q1179*

c.3535C>T