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

2 papers

NM_018557.3

p.L4013M

c.12037C>A

Surrounding Variants

1 paper

NM_018557.3

p.G4015A

c.12044G>C

7 papers

NM_018557.3

p.P4016L

c.12047C>T

1 paper

NM_018557.3

p.N4009N

c.12027C>T

1 paper

NM_018557.3

p.N4009K

c.12027C>G

1 paper

NM_018557.3

p.N4009K

c.12027C>A

2 papers

NM_018557.3

p.N4017T

c.12050A>C

1 paper

NM_018557.3

p.S4007T

c.12019T>A

1 paper

NM_018557.3

p.T4019A

c.12055A>G

1 paper

NM_018557.3

p.T4019delins

c.12056_12057delinsAA

1 paper

NM_018557.3

p.L4021P

c.12062T>C

1 paper

NM_018557.3

p.L4004V

c.12010C>G

1 paper

NM_018557.3

p.S4003N

c.12008G>A