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

8 papers

NM_018557.3

p.R2443C

c.7327C>T

Surrounding Variants

1 paper

NM_018557.3

p.R2443H

c.7328G>A

1 paper

NM_018557.3

p.L2442F

c.7324C>T

2 papers

NM_018557.3

p.L2442I

c.7324C>A

1 paper

NM_018557.3

p.I2441fs

c.7321_7322fs

1 paper

NM_018557.3

p.S2444Y

c.7331C>A

1 paper

NM_018557.3

p.D2445Y

c.7333G>T

1 paper

NM_018557.3

p.D2445N

c.7333G>A

1 paper

NM_018557.3

p.D2438E

c.7314T>G

1 paper

NM_018557.3

p.D2438E

c.7314T>A

1 paper

NM_018557.3

p.P2447Q

c.7340C>A

1 paper

NM_018557.3

p.H2448L

c.7343A>T

1 paper

NM_018557.3

p.G2436R

c.7306G>C