Varaico: Literature-Extracted Genetic Variants

LRP1B

981 papers

RefSeq Summary

This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with mul...

Pfam Domains

Ldl_recept_aaa 30–69UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 75–113UCSCLow-density lipoprotein receptor domain class A

EGF_CAaa 155–193UCSCCalcium-binding EGF domain

Ldl_recept_baa 295–335UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 568–608UCSCLow-density lipoprotein receptor repeat class B

Ldl_recept_baa 611–654UCSCLow-density lipoprotein receptor repeat class B

Gene Aliases

HGNC Name

LDL receptor related protein 1B

HGNC Alias Symbols

LRP-DIT; LRPDIT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018557.3

p.Q2156H

c.6468A>T

Surrounding Variants

1 paper

NM_018557.3

p.Q2156H

c.6468A>C

1 paper

NM_018557.3

p.L2157F

c.6469C>T

1 paper

NM_018557.3

p.K2155T

c.6464A>C

1 paper

NM_018557.3

p.C2158F

c.6473G>T

1 paper

NM_018557.3

p.G2153R

c.6457G>C

2 papers

NM_018557.3

p.R2161*

c.6481C>T

1 paper

NM_018557.3

p.G2162*

c.6484G>T

1 paper

NM_018557.3

p.G2162R

c.6484G>C

1 paper

NM_018557.3

p.G2162R

c.6484G>A

1 paper

NM_018557.3

p.N2151I

c.6452A>T

1 paper

NM_018557.3

p.G2162E

c.6485G>A

1 paper

NM_018557.3

p.R2149M

c.6446G>T