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

2 papers

NM_002299.4

p.S1150delFs

c.3448delA

Surrounding Variants

1 paper

NM_002299.4

p.S1150S

c.3450C>T

3 papers

NM_002299.4

p.S1150fs

c.3448_3449fs

1 paper

NM_002299.4

p.F1154C

c.3461T>G

1 paper

NM_002299.4

p.Q1179*

c.3535C>T

3 papers

NM_002299.4

p.S1121L

c.3362C>T

1 paper

NM_002299.4

p.V1119A

c.3356T>C

1 paper

NM_002299.4

p.S1184F

c.3551C>T

1 paper

NM_002299.4

p.Q1114R

c.3341A>G

1 paper

NM_002299.4

p.R1113R

c.3339G>A

1 paper

NM_002299.4

p.T1200M

c.3599C>T

1 paper

NM_002299.4

p.D1202E

c.3606C>G

1 paper

NM_002299.4

p.D1202E

c.3606C>A