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

1–12 of 92 variants

2 papers

NM_013437.5

p.S194G

c.580A>G

2 papers

NM_013437.5

p.C355G

c.1063T>G

2 papers

NM_013437.5

p.T683M

c.2048C>T

1 paper

NM_013437.5

p.M1T

c.2T>C

1 paper

NM_013437.5

p.E9ins5

c.25_26ins15

1 paper

NM_013437.5

p.P11_R12delins

c.33_34delinsCT

1 paper

NM_013437.5

p.W13delins

c.38_39delinsTT

1 paper

NM_013437.5

p.A32P

c.94G>C

1 paper

NM_013437.5

p.H34L

c.101A>T

1 paper

NM_013437.5

p.T50A

c.148A>G

1 paper

NM_013437.5

p.S58R

c.172A>C

1 paper

NM_013437.5

p.S58R

c.174T>G