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.H2247P

c.6740A>C

Surrounding Variants

1 paper

NM_018557.3

p.G2249A

c.6746G>C

1 paper

NM_018557.3

p.N2250D

c.6748A>G

1 paper

NM_018557.3

p.N2250S

c.6749A>G

1 paper

NM_018557.3

p.Y2243*

c.6729C>G

1 paper

NM_018557.3

p.Y2243*

c.6729C>A

1 paper

NM_018557.3

p.F2242S

c.6725T>C

1 paper

NM_018557.3

p.Q2252H

c.6756G>T

1 paper

NM_018557.3

p.Q2252H

c.6756G>C

1 paper

NM_018557.3

p.R2240Q

c.6719G>A

1 paper

NM_018557.3

p.R2240*

c.6718C>T

2 papers

NM_018557.3

p.D2256Y

c.6766G>T

1 paper

NM_018557.3

p.G2237V

c.6710G>T