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

3 papers

NM_015627.3

p.S202delFs

c.604delT

Surrounding Variants

1 paper

NM_015627.3

p.P201R

c.602C>G

1 paper

NM_015627.3

p.P201_S202delFs

c.603_604delCT

19 papers

NM_015627.3

p.S202P

c.604T>C

3 papers

NM_015627.3

p.S202insFs

c.606dupC

6 papers

NM_015627.3

p.S202fs

c.604_605fs

2 papers

NM_015627.3

p.S202Fs

c.604_605delinsAFs

2 papers

NM_015627.3

p.S202delins

c.604_605delinsCA

5 papers

NM_015627.3

p.S202fs

c.604_605fs

10 papers

NM_015627.3

p.S202Y

c.605C>A

2 papers

NM_015627.3

p.S202F

c.605C>T

7 papers

NM_015627.3

p.P201insFs

c.603dupC

1 paper

NM_015627.3

p.P201insFs

c.602_603dupCC