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.R115Splc

c.345-2A>G

Surrounding Variants

2 papers

NM_015627.3

p.S117Y

c.350C>A

1 paper

NM_015627.3

p.M124L

c.370A>T

3 papers

NM_015627.3

p.H125Y

c.373C>T

2 papers

NM_015627.3

p.D126N

c.376G>A

1 paper

NM_015627.3

p.V128G

c.383T>G

1 paper

NM_015627.3

p.A130G

c.389C>G

2 papers

NM_015627.3

p.Q134*

c.400C>T

1 paper

NM_015627.3

p.Q134delFs

c.402delG

1 paper

NM_015627.3

p.S135fs

c.403_404fs

1 paper

NM_015627.3

p.Q136K

c.406C>A

21 papers

NM_015627.3

p.Q136*

c.406C>T

2 papers

NM_015627.3

p.N138S

c.413A>G