Varaico: Literature-Extracted Genetic Variants

APPL1

120 papers

RefSeq Summary

The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The enc...

Pfam Domains

BAR_3aa 7–247UCSCBAR domain of APPL family

PHaa 278–375UCSCPH domain

PIDaa 502–633UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

HGNC Previous Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012096.3

p.L23Q

c.68T>A

Surrounding Variants

1 paper

NM_012096.3

p.Q18_T19Splc

c.55-2A>G

1 paper

NM_012096.3

p.R46fs

c.136_137fs

1 paper

NM_012096.3

p.R46delFs

c.137delG

1 paper

NM_012096.3

p.D49E

c.147T>A

1 paper

NM_012096.3

p.D49E

c.147T>G

2 papers

NM_012096.3

p.K63E

c.187A>G

1 paper

NM_012096.3

p.K63R

c.188A>G

3 papers

NM_012096.3

p.E67G

c.200A>G

1 paper

NM_012096.3

p.E69A

c.206A>C

1 paper

NM_012096.3

p.Q71_R72Splc

c.213+1G>T

2 papers

NM_012096.3

p.Q71_R72Splc

c.214-160G>A

2 papers

NM_012096.3

p.Q71_R72Splc

c.214-18C>A