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.M310L

c.928A>C

Surrounding Variants

1 paper

NM_018171.5

p.M310L

c.928A>T

1 paper

NM_018171.5

p.A318_D324del7

c.952_971del21

1 paper

NM_018171.5

p.L325P

c.974T>C

1 paper

NM_018171.5

p.G291delFs

c.873delC

1 paper

NM_018171.5

p.S329*

c.986C>G

1 paper

NM_018171.5

p.S329*

c.986C>A

1 paper

NM_018171.5

p.R338W

c.1012C>T

1 paper

NM_018171.5

p.T346M

c.1037C>T

1 paper

NM_018171.5

p.E253*

c.757G>T

1 paper

NM_018171.5

p.R248W

c.742C>T

1 paper

NM_018171.5

p.E245K

c.733G>A

1 paper

NM_018171.5

p.E358K

c.1072G>A