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.G3118V

c.9353G>T

Surrounding Variants

1 paper

NM_018557.3

p.P3121T

c.9361C>A

2 papers

NM_018557.3

p.T3122I

c.9365C>T

1 paper

NM_018557.3

p.S3114F

c.9341C>T

2 papers

NM_018557.3

p.S3114Y

c.9341C>A

1 paper

NM_018557.3

p.R3109_V3113delFs

c.9327_9337del11

1 paper

NM_018557.3

p.V3113I

c.9337G>A

1 paper

NM_018557.3

p.L3124R

c.9371T>G

3 papers

NM_018557.3

p.E3112K

c.9334G>A

1 paper

NM_018557.3

p.V3125F

c.9373G>T

1 paper

NM_018557.3

p.V3125L

c.9373G>C

2 papers

NM_018557.3

p.V3125I

c.9373G>A

2 papers

NM_018557.3

p.R3109fs

c.9325_9326fs