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.K2222N

c.6666G>T

Surrounding Variants

1 paper

NM_018557.3

p.K2222N

c.6666G>C

1 paper

NM_018557.3

p.Y2220F

c.6659A>T

2 papers

NM_018557.3

p.I2225T

c.6674T>C

5 papers

NM_018557.3

p.R2219H

c.6656G>A

4 papers

NM_018557.3

p.R2219C

c.6655C>T

1 paper

NM_018557.3

p.R2219G

c.6655C>G

1 paper

NM_018557.3

p.A2226A

c.6678C>T

1 paper

NM_018557.3

p.P2218L

c.6653C>T

1 paper

NM_018557.3

p.E2216D

c.6648G>T

1 paper

NM_018557.3

p.E2216D

c.6648G>C

1 paper

NM_018557.3

p.F2229L

c.6685T>C

1 paper

NM_018557.3

p.E2216K

c.6646G>A