Varaico: Literature-Extracted Genetic Variants

APPL2

48 papers

RefSeq Summary

The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (...

Pfam Domains

BAR_3aa 7–247UCSCBAR domain of APPL family

PHaa 278–375UCSCPH domain

PIDaa 494–613UCSCPhosphotyrosine interaction domain (PTB/PID)

Gene Aliases

HGNC Name

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

HGNC Alias Symbols

FLJ10659; DIP13B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018171.5

p.K70R

c.209A>G

Surrounding Variants

1 paper

NM_018171.5

p.Q59L

c.176A>T

1 paper

NM_018171.5

p.L107fs

c.319_320fs

1 paper

NM_018171.5

p.Q106_A108delFs

c.318_324del7

1 paper

NM_018171.5

p.R119*

c.355C>T

1 paper

NM_018171.5

p.L123L

c.369C>G

1 paper

NM_018171.5

p.D141G

c.422A>G

1 paper

NM_018171.5

p.K154fs

c.460_461fs

1 paper

NM_018171.5

p.E155_E157delFs

c.465_471del7