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

9 papers

NM_018557.3

p.Q3140R

c.9419A>G

Surrounding Variants

1 paper

NM_018557.3

p.Q3140*

c.9418C>T

1 paper

NM_018557.3

p.Q3140E

c.9418C>G

1 paper

NM_018557.3

p.Q3140H

c.9420A>T

1 paper

NM_018557.3

p.Q3140Q

c.9420A>G

1 paper

NM_018557.3

p.Q3140H

c.9420A>C

1 paper

NM_018557.3

p.A3141S

c.9421G>T

1 paper

NM_018557.3

p.P3139H

c.9416C>A

2 papers

NM_018557.3

p.P3139T

c.9415C>A

1 paper

NM_018557.3

p.L3135F

c.9405G>T

1 paper

NM_018557.3

p.L3135F

c.9405G>C

2 papers

NM_018557.3

p.D3134G

c.9401A>G

1 paper

NM_018557.3

p.D3134Y

c.9400G>T