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

1–12 of 3774 variants

13 papers

NM_018557.3

p.Q48R

c.143A>G

13 papers

NM_018557.3

p.G2474S

c.7420G>A

11 papers

NM_018557.3

p.G3615A

c.10844G>C

11 papers

NM_018557.3

p.Q3734K

c.11200C>A

10 papers

NM_018557.3

p.G3743S

c.11227G>A

9 papers

NM_018557.3

p.I761V

c.2281A>G

9 papers

NM_018557.3

p.L1392F

c.4174C>T

9 papers

NM_018557.3

p.R2165W

c.6493C>T

9 papers

NM_018557.3

p.Q3140R

c.9419A>G

8 papers

NM_018557.3

p.R2443C

c.7327C>T

8 papers

NM_018557.3

p.G4199E

c.12596G>A

7 papers

NM_018557.3

p.P4016L

c.12047C>T