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

1 paper

NM_015627.3

p.T77P

c.229A>C

Surrounding Variants

1 paper

NM_015627.3

p.T77_A78Splc

c.231+2T>C

1 paper

NM_015627.3

p.I74M

c.222C>G

1 paper

NM_015627.3

p.R73K

c.218G>A

1 paper

NM_015627.3

p.I71_K72insG

c.211_215ins3

1 paper

NM_015627.3

p.A70fs

c.208_209fs

1 paper

NM_015627.3

p.A69V

c.206C>T

1 paper

NM_015627.3

p.A70_I71del2

c.208_212del6

2 papers

NM_015627.3

p.A69T

c.205G>A

2 papers

NM_015627.3

p.A69delFs

c.207delC

2 papers

NM_015627.3

p.S67L

c.200C>T

1 paper

NM_015627.3

p.A68delFs

c.202delG

1 paper

NM_015627.3

p.S67_A68delFs

c.201_202delGG