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.T1644M

c.4931C>T

Surrounding Variants

1 paper

NM_002299.4

p.T1644T

c.4932G>A

6 papers

NM_002299.4

p.N1639S

c.4916A>G

7 papers

NM_002299.4

p.E1612*

c.4834G>T

7 papers

NM_002299.4

p.R1587H

c.4760G>A

1 paper

NM_002299.4

p.R1587C

c.4759C>T

1 paper

NM_002299.4

p.D1584N

c.4750G>A

1 paper

NM_002299.4

p.H1575D

c.4723C>G

1 paper

NM_002299.4

p.S1666fs

c.4996_4997fs

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.Y1549C

c.4646A>G

3 papers

NM_002299.4

p.L1536L

c.4606C>T