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.C420R

c.1258T>C

Surrounding Variants

1 paper

NM_013437.5

p.S421F

c.1262C>T

1 paper

NM_013437.5

p.R394H

c.1181G>A

1 paper

NM_013437.5

p.E391K

c.1171G>A

1 paper

NM_013437.5

p.C451fs

c.1351_1352fs

1 paper

NM_013437.5

p.N455_F456insC

c.1363_1367ins3

1 paper

NM_013437.5

p.G383del1

c.1147_1149delTCC

1 paper

NM_013437.5

p.D372N

c.1114G>A

1 paper

NM_013437.5

p.D471N

c.1411G>A

1 paper

NM_013437.5

p.A361V

c.1082C>T

1 paper

NM_013437.5

p.G479S

c.1435G>A

1 paper

NM_013437.5

p.E482D

c.1446A>T

1 paper

NM_013437.5

p.E482D

c.1446A>C