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.T50A

c.148A>G

Surrounding Variants

1 paper

NM_013437.5

p.S58R

c.172A>C

1 paper

NM_013437.5

p.S58R

c.174T>G

1 paper

NM_013437.5

p.S58R

c.174T>A

1 paper

NM_013437.5

p.I60_I61delins

c.180_181delinsAA

1 paper

NM_013437.5

p.S68F

c.203C>T

1 paper

NM_013437.5

p.Y70N

c.208T>A

1 paper

NM_013437.5

p.I74V

c.220A>G

1 paper

NM_013437.5

p.I88N

c.263T>A

1 paper

NM_013437.5

p.R140W

c.418A>T

1 paper

NM_013437.5

p.K150fs

c.448_449fs

1 paper

NM_013437.5

p.K150insFs

c.449dupA

1 paper

NM_013437.5

p.F152insFs

c.455_456insC