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.S1408T

c.4222T>A

Surrounding Variants

1 paper

NM_018557.3

p.S1408F

c.4223C>T

1 paper

NM_018557.3

p.A1407D

c.4220C>A

1 paper

NM_018557.3

p.M1409I

c.4227G>T

1 paper

NM_018557.3

p.M1409I

c.4227G>C

1 paper

NM_018557.3

p.M1409I

c.4227G>A

1 paper

NM_018557.3

p.S1410N

c.4229G>A

1 paper

NM_018557.3

p.A1412fs

c.4234_4235fs

1 paper

NM_018557.3

p.A1412S

c.4234G>T

1 paper

NM_018557.3

p.A1412insFs

c.4234_4235ins16

1 paper

NM_018557.3

p.A1412D

c.4235C>A

1 paper

NM_018557.3

p.R1403L

c.4208G>T

1 paper

NM_018557.3

p.R1403P

c.4208G>C