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.S1666fs

c.4996_4997fs

Surrounding Variants

4 papers

NM_002299.4

p.S1666_E1667delFs

c.4998_5001del4

1 paper

NM_002299.4

p.Y1683*

c.5049C>A

1 paper

NM_002299.4

p.T1644T

c.4932G>A

1 paper

NM_002299.4

p.T1644M

c.4931C>T

6 papers

NM_002299.4

p.N1639S

c.4916A>G

1 paper

NM_002299.4

p.Y1740H

c.5218T>C

1 paper

NM_002299.4

p.I1745S

c.5234T>G

1 paper

NM_002299.4

p.R1765K

c.5294G>A

1 paper

NM_002299.4

p.D1796fs

c.5386_5387fs

2 papers

NM_002299.4

p.D1796fs

c.5386_5387fs

4 papers

NM_002299.4

p.D1796delFs

c.5387delT

1 paper

NM_002299.4

p.G1803D

c.5408G>A