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.T350I

c.1049C>T

Surrounding Variants

1 paper

NM_002299.4

p.E349G

c.1046A>G

1 paper

NM_002299.4

p.P342L

c.1025C>T

1 paper

NM_002299.4

p.L340P

c.1019T>C

2 papers

NM_002299.4

p.Q360H

c.1080G>T

2 papers

NM_002299.4

p.Q360H

c.1080G>C

3 papers

NM_002299.4

p.I362V

c.1084A>G

1 paper

NM_002299.4

p.W363delFs

c.1089delC

1 paper

NM_002299.4

p.E373Q

c.1117G>C

1 paper

NM_002299.4

p.E373G

c.1118A>G

1 paper

NM_002299.4

p.E373D

c.1119A>T

1 paper

NM_002299.4

p.E373D

c.1119A>C

1 paper

NM_002299.4

p.A376D

c.1127C>A