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.N292S

c.875A>G

Surrounding Variants

1 paper

NM_002299.4

p.A303Splc

c.907+1G>A

5 papers

NM_002299.4

p.N305K

c.915T>G

2 papers

NM_002299.4

p.I316V

c.946A>G

1 paper

NM_002299.4

p.N317T

c.950A>C

2 papers

NM_002299.4

p.L320L

c.958C>T

1 paper

NM_002299.4

p.K327_K328del1

c.980_982delTCT

5 papers

NM_002299.4

p.Q268H

c.804G>T

6 papers

NM_002299.4

p.Q268H

c.804G>C

1 paper

NM_002299.4

p.R261delFs

c.783delC

1 paper

NM_002299.4

p.R261Q

c.782G>A

1 paper

NM_002299.4

p.C254R

c.760T>C

1 paper

NM_002299.4

p.Y252Y

c.756T>C