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.Y1418F

c.4253A>T

Surrounding Variants

1 paper

NM_018557.3

p.Y1418H

c.4252T>C

1 paper

NM_018557.3

p.K1419N

c.4257A>T

1 paper

NM_018557.3

p.I1417V

c.4249A>G

1 paper

NM_018557.3

p.K1419N

c.4257A>C

2 papers

NM_018557.3

p.T1416I

c.4247C>T

2 papers

NM_018557.3

p.M1421I

c.4263G>T

2 papers

NM_018557.3

p.M1421I

c.4263G>C

2 papers

NM_018557.3

p.M1421I

c.4263G>A

1 paper

NM_018557.3

p.R1414K

c.4241G>A

1 paper

NM_018557.3

p.T1423fs

c.4267_4268fs

1 paper

NM_018557.3

p.T1423I

c.4268C>T

1 paper

NM_018557.3

p.T1423N

c.4268C>A