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.H3084R

c.9251A>G

Surrounding Variants

1 paper

NM_018557.3

p.K3081_V3082Splc

c.9244-1G>A

4 papers

NM_018557.3

p.A3087V

c.9260C>T

1 paper

NM_018557.3

p.P3089S

c.9265C>T

1 paper

NM_018557.3

p.N3090D

c.9268A>G

1 paper

NM_018557.3

p.N3090fs

c.9268_9269fs

1 paper

NM_018557.3

p.N3090insFs

c.9269dupA

1 paper

NM_018557.3

p.A3091T

c.9271G>A

3 papers

NM_018557.3

p.D3095N

c.9283G>A

1 paper

NM_018557.3

p.W3096L

c.9287G>T

1 paper

NM_018557.3

p.W3096_I3097del2

c.9286_9290del6

1 paper

NM_018557.3

p.G3098E

c.9293G>A

1 paper

NM_018557.3

p.K3099Q

c.9295A>C