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.C4176R

c.12526T>C

Surrounding Variants

1 paper

NM_018557.3

p.C4176S

c.12526T>A

1 paper

NM_018557.3

p.C4176S

c.12527G>C

1 paper

NM_018557.3

p.C4176*

c.12528C>A

1 paper

NM_018557.3

p.L4177F

c.12531G>T

1 paper

NM_018557.3

p.L4177F

c.12531G>C

1 paper

NM_018557.3

p.D4178E

c.12534T>G

1 paper

NM_018557.3

p.D4178E

c.12534T>A

1 paper

NM_018557.3

p.P4175_D4178del4

c.12523_12533del12

1 paper

NM_018557.3

p.A4180T

c.12538G>A

2 papers

NM_018557.3

p.C4181*

c.12543C>A

2 papers

NM_018557.3

p.E4182K

c.12544G>A

1 paper

NM_018557.3

p.F4183I

c.12547T>A