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.G2436R

c.7306G>A

Surrounding Variants

1 paper

NM_018557.3

p.G2436R

c.7306G>C

1 paper

NM_018557.3

p.T2435I

c.7304C>T

1 paper

NM_018557.3

p.D2438E

c.7314T>G

1 paper

NM_018557.3

p.D2438E

c.7314T>A

1 paper

NM_018557.3

p.K2433E

c.7297A>G

1 paper

NM_018557.3

p.I2441fs

c.7321_7322fs

2 papers

NM_018557.3

p.R2430L

c.7289G>T

1 paper

NM_018557.3

p.R2430P

c.7289G>C

3 papers

NM_018557.3

p.R2430Q

c.7289G>A

3 papers

NM_018557.3

p.R2430W

c.7288C>T

1 paper

NM_018557.3

p.L2442F

c.7324C>T

2 papers

NM_018557.3

p.L2442I

c.7324C>A