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.W35*

c.104G>A

Surrounding Variants

1 paper

NM_015627.3

p.W35*

c.105G>A

1 paper

NM_015627.3

p.D37N

c.109G>A

1 paper

NM_015627.3

p.D37Y

c.109G>T

1 paper

NM_015627.3

p.T38delFs

c.112_113delAC

1 paper

NM_015627.3

p.E33K

c.97G>A

1 paper

NM_015627.3

p.T38fs

c.112_113fs

2 papers

NM_015627.3

p.T38M

c.113C>T

3 papers

NM_015627.3

p.R39W

c.115C>T

1 paper

NM_015627.3

p.K30fs

c.88_89fs

7 papers

NM_015627.3

p.K30Splc

c.89-1G>C

2 papers

NM_015627.3

p.T41M

c.122C>T

1 paper

NM_015627.3

p.L43_E44insCTG

c.127_131ins9