Varaico: Literature-Extracted Genetic Variants

LRP12

66 papers

RefSeq Summary

This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Al...

Pfam Domains

CUBaa 47–156UCSCCUB domain

Ldl_recept_aaa 164–200UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 213–254UCSCLow-density lipoprotein receptor domain class A

CUBaa 259–369UCSCCUB domain

Ldl_recept_aaa 411–448UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 450–485UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

LDL receptor related protein 12

HGNC Alias Symbol

FLJ12929

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013437.5

p.A216delFs

c.646delC

Surrounding Variants

1 paper

NM_013437.5

p.A204V

c.611C>T

1 paper

NM_013437.5

p.E235delFs

c.703delC

1 paper

NM_013437.5

p.E235fs

c.703_704fs

2 papers

NM_013437.5

p.S194G

c.580A>G

1 paper

NM_013437.5

p.K184R

c.551A>G

1 paper

NM_013437.5

p.G159E

c.476G>A

1 paper

NM_013437.5

p.Y275C

c.824A>G

1 paper

NM_013437.5

p.W287*

c.860G>A

1 paper

NM_013437.5

p.W287*

c.861G>A

1 paper

NM_013437.5

p.L299_R300delins

c.896_899delinsG

1 paper

NM_013437.5

p.S337C

c.1010C>G

2 papers

NM_013437.5

p.C355G

c.1063T>G