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.I2196I

c.6588A>T

Surrounding Variants

1 paper

NM_018557.3

p.L2197S

c.6590T>C

1 paper

NM_018557.3

p.K2198T

c.6593A>C

1 paper

NM_018557.3

p.S2199insFs

c.6595dupA

1 paper

NM_018557.3

p.S2199fs

c.6595_6596fs

2 papers

NM_018557.3

p.G2193E

c.6578G>A

2 papers

NM_018557.3

p.L2202F

c.6604C>T

2 papers

NM_018557.3

p.L2202I

c.6604C>A

1 paper

NM_018557.3

p.L2190R

c.6569T>G

1 paper

NM_018557.3

p.S2203S

c.6609T>C

1 paper

NM_018557.3

p.T2206I

c.6617C>T

1 paper

NM_018557.3

p.E2186D

c.6558A>T

1 paper

NM_018557.3

p.E2186D

c.6558A>C