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

13 papers

NM_018557.3

p.Q48R

c.143A>G

Surrounding Variants

2 papers

NM_018557.3

p.S47F

c.140C>T

2 papers

NM_018557.3

p.S47P

c.139T>C

1 paper

NM_018557.3

p.W50G

c.148T>G

1 paper

NM_018557.3

p.W50C

c.150G>T

1 paper

NM_018557.3

p.W50C

c.150G>C

1 paper

NM_018557.3

p.L51R

c.152T>G

1 paper

NM_018557.3

p.T44N

c.131C>A

1 paper

NM_018557.3

p.V43V

c.129G>A

1 paper

NM_018557.3

p.H42H

c.126C>T

1 paper

NM_018557.3

p.H42Y

c.124C>T

6 papers

NM_018557.3

p.D41N

c.121G>A

2 papers

NM_018557.3

p.P56S

c.166C>T