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.I1030I

c.3090C>T

Surrounding Variants

1 paper

NM_002299.4

p.N1035Y

c.3103A>T

1 paper

NM_002299.4

p.L1007insFs

c.3020_3021insC

1 paper

NM_002299.4

p.K1058T

c.3173A>C

2 papers

NM_002299.4

p.G1073D

c.3218G>A

1 paper

NM_002299.4

p.G1077R

c.3229G>A

1 paper

NM_002299.4

p.G1077E

c.3230G>A

1 paper

NM_002299.4

p.W980_R982del3

c.2938_2945del9

1 paper

NM_002299.4

p.H1095H

c.3285C>T

1 paper

NM_002299.4

p.A1096T

c.3286G>A

1 paper

NM_002299.4

p.A961A

c.2883C>T

1 paper

NM_002299.4

p.R1113R

c.3339G>A

1 paper

NM_002299.4

p.Q1114R

c.3341A>G