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.L38I

c.112C>A

Surrounding Variants

1 paper

NM_018557.3

p.C39Y

c.116G>A

1 paper

NM_018557.3

p.E36D

c.108A>T

1 paper

NM_018557.3

p.E36D

c.108A>C

1 paper

NM_018557.3

p.G35A

c.104G>C

6 papers

NM_018557.3

p.D41N

c.121G>A

1 paper

NM_018557.3

p.P34P

c.102T>C

1 paper

NM_018557.3

p.P34L

c.101C>T

1 paper

NM_018557.3

p.H42Y

c.124C>T

1 paper

NM_018557.3

p.P34S

c.100C>T

1 paper

NM_018557.3

p.P34A

c.100C>G

1 paper

NM_018557.3

p.D33E

c.99T>G

1 paper

NM_018557.3

p.D33E

c.99T>A