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.A2171V

c.6512C>T

Surrounding Variants

1 paper

NM_018557.3

p.C2170Y

c.6509G>A

1 paper

NM_018557.3

p.G2173R

c.6517G>A

1 paper

NM_018557.3

p.G2173V

c.6518G>T

1 paper

NM_018557.3

p.G2173E

c.6518G>A

1 paper

NM_018557.3

p.C2168Y

c.6503G>A

1 paper

NM_018557.3

p.G2173_L2175delins

c.6518_6524delinsAATATTA

1 paper

NM_018557.3

p.A2176T

c.6526G>A

1 paper

NM_018557.3

p.Y2174_L2175del2

c.6520_6524del6

1 paper

NM_018557.3

p.R2166I

c.6497G>T

1 paper

NM_018557.3

p.R2165Q

c.6494G>A

9 papers

NM_018557.3

p.R2165W

c.6493C>T

1 paper

NM_018557.3

p.D2178N

c.6532G>A