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

1–12 of 172 variants

14 papers

NM_002299.4

p.Y1390*

c.4170T>A

13 papers

NM_002299.4

p.Y1390*

c.4170T>G

12 papers

NM_002299.4

p.G1363S

c.4087G>A

10 papers

NM_002299.4

p.V219I

c.655G>A

7 papers

NM_002299.4

p.R1587H

c.4760G>A

7 papers

NM_002299.4

p.E1612*

c.4834G>T

6 papers

NM_002299.4

p.Q268H

c.804G>C

6 papers

NM_002299.4

p.S688P

c.2062T>C

6 papers

NM_002299.4

p.N1639S

c.4916A>G

6 papers

NM_002299.4

p.I1860T

c.5579T>C

5 papers

NM_002299.4

p.Q268H

c.804G>T

5 papers

NM_002299.4

p.N305K

c.915T>G