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.F3131I

c.9391T>A

Surrounding Variants

1 paper

NM_018557.3

p.K3130M

c.9389A>T

1 paper

NM_018557.3

p.P3132S

c.9394C>T

1 paper

NM_018557.3

p.R3128M

c.9383G>T

1 paper

NM_018557.3

p.D3134Y

c.9400G>T

3 papers

NM_018557.3

p.D3134N

c.9400G>A

1 paper

NM_018557.3

p.K3127N

c.9381A>T

2 papers

NM_018557.3

p.D3134G

c.9401A>G

1 paper

NM_018557.3

p.K3127N

c.9381A>C

1 paper

NM_018557.3

p.L3135F

c.9405G>T

1 paper

NM_018557.3

p.L3135F

c.9405G>C

1 paper

NM_018557.3

p.V3125F

c.9373G>T

1 paper

NM_018557.3

p.V3125L

c.9373G>C