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.Q3731K

c.11191C>A

Surrounding Variants

1 paper

NM_018557.3

p.Q3731L

c.11192A>T

1 paper

NM_018557.3

p.L3730I

c.11188C>A

1 paper

NM_018557.3

p.S3732S

c.11196G>T

1 paper

NM_018557.3

p.E3733Q

c.11197G>C

11 papers

NM_018557.3

p.Q3734K

c.11200C>A

1 paper

NM_018557.3

p.Q3734R

c.11201A>G

1 paper

NM_018557.3

p.R3727I

c.11180G>T

1 paper

NM_018557.3

p.C3723G

c.11167T>G

1 paper

NM_018557.3

p.R3719I

c.11156G>T

10 papers

NM_018557.3

p.G3743S

c.11227G>A

2 papers

NM_018557.3

p.T3718M

c.11153C>T

1 paper

NM_018557.3

p.T3718K

c.11153C>A