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.C4194Y

c.12581G>A

Surrounding Variants

1 paper

NM_018557.3

p.V4195M

c.12583G>A

1 paper

NM_018557.3

p.C4196F

c.12587G>T

1 paper

NM_018557.3

p.A4192V

c.12575C>T

1 paper

NM_018557.3

p.S4190S

c.12570T>A

1 paper

NM_018557.3

p.G4199R

c.12595G>C

1 paper

NM_018557.3

p.G4199R

c.12595G>A

1 paper

NM_018557.3

p.E4198_G4199delins

c.12593_12595delinsGAT

1 paper

NM_018557.3

p.G4199V

c.12596G>T

8 papers

NM_018557.3

p.G4199E

c.12596G>A

2 papers

NM_018557.3

p.P4189L

c.12566C>T

1 paper

NM_018557.3

p.Y4201C

c.12602A>G

1 paper

NM_018557.3

p.L4202S

c.12605T>C