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.P4029S

c.12085C>T

Surrounding Variants

1 paper

NM_018557.3

p.E4028*

c.12082G>T

1 paper

NM_018557.3

p.A4031S

c.12091G>T

1 paper

NM_018557.3

p.A4031D

c.12092C>A

1 paper

NM_018557.3

p.A4026V

c.12077C>T

1 paper

NM_018557.3

p.A4026T

c.12076G>A

1 paper

NM_018557.3

p.I4032T

c.12095T>C

1 paper

NM_018557.3

p.M4025I

c.12075G>T

1 paper

NM_018557.3

p.M4025I

c.12075G>C

1 paper

NM_018557.3

p.M4025I

c.12075G>A

1 paper

NM_018557.3

p.M4025T

c.12074T>C

1 paper

NM_018557.3

p.N4024H

c.12070A>C

1 paper

NM_018557.3

p.L4021P

c.12062T>C