Varaico: Literature-Extracted Genetic Variants

LDLRAP1

269 papers

RefSeq Summary

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. ...

Pfam Domains

PIDaa 48–174UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

low density lipoprotein receptor adaptor protein 1

HGNC Alias Symbols

ARH; ARH2; FHCB1; FHCB2; MGC34705; DKFZp586D0624

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015627.3

p.M46T

c.137T>C

Surrounding Variants

1 paper

NM_015627.3

p.L47V

c.139C>G

1 paper

NM_015627.3

p.F48delFs

c.142delT

1 paper

NM_015627.3

p.F48fs

c.142_143fs

1 paper

NM_015627.3

p.F48S

c.143T>C

1 paper

NM_015627.3

p.L43_E44insCTG

c.127_131ins9

1 paper

NM_015627.3

p.L50F

c.148C>T

2 papers

NM_015627.3

p.T41M

c.122C>T

1 paper

NM_015627.3

p.Y52_V58del0

c.156_173del18

3 papers

NM_015627.3

p.R39W

c.115C>T

2 papers

NM_015627.3

p.T38M

c.113C>T

2 papers

NM_015627.3

p.G54D

c.161G>A

1 paper

NM_015627.3

p.T38fs

c.112_113fs