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.G783R

c.2347G>A

Surrounding Variants

1 paper

NM_018557.3

p.G783R

c.2347G>C

1 paper

NM_018557.3

p.G783V

c.2348G>T

1 paper

NM_018557.3

p.L784insFs

c.2352dupT

1 paper

NM_018557.3

p.Q785L

c.2354A>T

1 paper

NM_018557.3

p.D788N

c.2362G>A

4 papers

NM_018557.3

p.R790*

c.2368C>T

3 papers

NM_018557.3

p.R790Q

c.2369G>A

1 paper

NM_018557.3

p.R775insFs

c.2324_2325ins8

1 paper

NM_018557.3

p.L773S

c.2318T>C

1 paper

NM_018557.3

p.G794C

c.2380G>T

1 paper

NM_018557.3

p.T768A

c.2302A>G

2 papers

NM_018557.3

p.I767M

c.2301A>G