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

2 papers

NM_015627.3

p.N138S

c.413A>G

Surrounding Variants

1 paper

NM_015627.3

p.Q136K

c.406C>A

21 papers

NM_015627.3

p.Q136*

c.406C>T

1 paper

NM_015627.3

p.S135fs

c.403_404fs

1 paper

NM_015627.3

p.Q134delFs

c.402delG

2 papers

NM_015627.3

p.Q134*

c.400C>T

1 paper

NM_015627.3

p.C143*

c.429C>A

6 papers

NM_015627.3

p.H144insFs

c.430_431insA

2 papers

NM_015627.3

p.H144fs

c.430_431fs

2 papers

NM_015627.3

p.H144fs

c.430_431fs

13 papers

NM_015627.3

p.H144_A145insFs

c.432_433insA

1 paper

NM_015627.3

p.H144H

c.432C>T

1 paper

NM_015627.3

p.A145fs

c.433_434fs