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.R723H

c.2168G>A

Surrounding Variants

1 paper

NM_013437.5

p.R732H

c.2195G>A

1 paper

NM_013437.5

p.M733I

c.2199G>T

1 paper

NM_013437.5

p.M733I

c.2199G>C

1 paper

NM_013437.5

p.M733I

c.2199G>A

1 paper

NM_013437.5

p.R738L

c.2213G>T

1 paper

NM_013437.5

p.H704D

c.2110C>G

1 paper

NM_013437.5

p.T743I

c.2228C>T

1 paper

NM_013437.5

p.R738_L744ins2

c.2214_2231dup18

1 paper

NM_013437.5

p.G745_S748delins

c.2235_2244delinsAATTCCCGTC

1 paper

NM_013437.5

p.L744_L750delins

c.2232_2248delinsAAAATTCC

1 paper

NM_013437.5

p.G745_L750delins

c.2235_2248delinsAATTC

1 paper

NM_013437.5

p.G745_L750del0

c.2235_2249del15