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.Y1549C

c.4646A>G

Surrounding Variants

3 papers

NM_002299.4

p.L1536L

c.4606C>T

1 paper

NM_002299.4

p.W1494*

c.4482G>A

2 papers

NM_002299.4

p.A1483S

c.4447G>T

3 papers

NM_002299.4

p.Y1473*

c.4419C>G

3 papers

NM_002299.4

p.Y1473*

c.4419C>A

1 paper

NM_002299.4

p.R1463K

c.4388G>A

1 paper

NM_002299.4

p.P1458S

c.4372C>T

1 paper

NM_002299.4

p.S1445C

c.4334C>G

13 papers

NM_002299.4

p.Y1390*

c.4170T>G

14 papers

NM_002299.4

p.Y1390*

c.4170T>A

1 paper

NM_002299.4

p.H1575D

c.4723C>G

1 paper

NM_002299.4

p.D1584N

c.4750G>A