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.S745S

c.2235G>A

Surrounding Variants

1 paper

NM_018557.3

p.S745L

c.2234C>T

1 paper

NM_018557.3

p.H746L

c.2237A>T

1 paper

NM_018557.3

p.L744Q

c.2231T>A

1 paper

NM_018557.3

p.P741R

c.2222C>G

1 paper

NM_018557.3

p.P741T

c.2221C>A

1 paper

NM_018557.3

p.V751M

c.2251G>A

1 paper

NM_018557.3

p.H740L

c.2219A>T

1 paper

NM_018557.3

p.H740Y

c.2218C>T

1 paper

NM_018557.3

p.H746_V751del6

c.2236_2252del18

1 paper

NM_018557.3

p.N739Y

c.2215A>T

1 paper

NM_018557.3

p.L738L

c.2212T>C

1 paper

NM_018557.3

p.W753*

c.2258G>A