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.G25fs

c.73_74fs

Surrounding Variants

1 paper

NM_015627.3

p.G25fs

c.73_74fs

4 papers

NM_015627.3

p.G25insFs

c.74dupG

1 paper

NM_015627.3

p.G25D

c.74G>A

2 papers

NM_015627.3

p.G24fs

c.70_71fs

1 paper

NM_015627.3

p.G26fs

c.76_77fs

1 paper

NM_015627.3

p.G24fs

c.70_71fs

1 paper

NM_015627.3

p.G26V

c.77G>T

17 papers

NM_015627.3

p.W22*

c.66G>A

20 papers

NM_015627.3

p.W22*

c.65G>A

3 papers

NM_015627.3

p.W22S

c.65G>C

6 papers

NM_015627.3

p.G24insFs

c.71dupG

1 paper

NM_015627.3

p.W22_G23insFs

c.66_67insGG