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

1–12 of 232 variants

21 papers

NM_015627.3

p.Q136*

c.406C>T

20 papers

NM_015627.3

p.W22*

c.65G>A

19 papers

NM_015627.3

p.S202P

c.604T>C

17 papers

NM_015627.3

p.W22*

c.66G>A

13 papers

NM_015627.3

p.H144_A145insFs

c.432_433insA

10 papers

NM_015627.3

p.S202Y

c.605C>A

8 papers

NM_015627.3

p.W22delFs

c.65delG

8 papers

NM_015627.3

p.T56M

c.167C>T

7 papers

NM_015627.3

p.K30Splc

c.89-1G>C

7 papers

NM_015627.3

p.P201insFs

c.603dupC

6 papers

NM_015627.3

p.G24insFs

c.71dupG

6 papers

NM_015627.3

p.H144insFs

c.430_431insA