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.R261delFs

c.783delC

Surrounding Variants

1 paper

NM_002299.4

p.R261Q

c.782G>A

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.C254R

c.760T>C

1 paper

NM_002299.4

p.Y252Y

c.756T>C

1 paper

NM_002299.4

p.V243V

c.729C>G

1 paper

NM_002299.4

p.Q240_D241Splc

c.720+39A>T

1 paper

NM_002299.4

p.Q240H

c.720G>C

1 paper

NM_002299.4

p.R222R

c.666A>G

1 paper

NM_002299.4

p.V219F

c.655G>T

10 papers

NM_002299.4

p.V219I

c.655G>A

3 papers

NM_002299.4

p.S218delFs

c.653_654delAG