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

9 papers

NM_018557.3

p.L1392F

c.4174C>T

Surrounding Variants

1 paper

NM_018557.3

p.L1392fs

c.4174_4175fs

1 paper

NM_018557.3

p.L1392V

c.4174C>G

2 papers

NM_018557.3

p.L1392I

c.4174C>A

1 paper

NM_018557.3

p.F1393L

c.4177T>C

3 papers

NM_018557.3

p.G1390Splc

c.4170-1G>T

1 paper

NM_018557.3

p.F1393F

c.4179C>T

2 papers

NM_018557.3

p.F1393L

c.4179C>G

1 paper

NM_018557.3

p.F1393L

c.4179C>A

1 paper

NM_018557.3

p.L1392_F1393delFs

c.4175_4178del4

3 papers

NM_018557.3

p.G1390Splc

c.4170-2A>T

1 paper

NM_018557.3

p.W1394*

c.4181G>A

1 paper

NM_018557.3

p.W1394*

c.4182G>A