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.I2496M

c.7488A>G

Surrounding Variants

1 paper

NM_018557.3

p.R2495Q

c.7484G>A

1 paper

NM_018557.3

p.R2495*

c.7483C>T

1 paper

NM_018557.3

p.E2499*

c.7495G>T

1 paper

NM_018557.3

p.D2500Y

c.7498G>T

1 paper

NM_018557.3

p.G2493W

c.7477G>T

1 paper

NM_018557.3

p.N2501Y

c.7501A>T

1 paper

NM_018557.3

p.N2501K

c.7503C>G

1 paper

NM_018557.3

p.N2501K

c.7503C>A

1 paper

NM_018557.3

p.S2490C

c.7469C>G

1 paper

NM_018557.3

p.C2489F

c.7466G>T

1 paper

NM_018557.3

p.V2504V

c.7512G>A

2 papers

NM_018557.3

p.R2486S

c.7458A>T