Varaico: Literature-Extracted Genetic Variants

AAAS

284 papers

RefSeq Summary

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein ...

Pfam Domains

Beta-prop_Aladinaa 135–485UCSCAladin seven-bladed propeller

Gene Aliases

HGNC Name

aladin WD repeat nucleoporin

HGNC Previous Names

achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A); achalasia, adrenocortical insufficiency, alacrimia

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

17 papers

NM_015665.6

p.R194*

c.580C>T

Surrounding Variants

1 paper

NM_001173466.2

p.Q160R

c.479A>G

4 papers

NM_015665.6

p.Q193*

c.577C>T

1 paper

NM_015665.6

p.R191P

c.572G>C

2 papers

NM_001173466.2

p.A167V

c.500C>T

NM_015665.6

p.A200V

c.599C>T

1 paper

NM_015665.6

p.P186S

c.556C>T

1 paper

NM_015665.6

p.V185Fs

c.554_555delinsAFs

1 paper

NM_015665.6

p.V185fs

c.553_554fs

1 paper

NM_015665.6

p.I184delFs

c.550delT

1 paper

NM_015665.6

p.T183S

c.548C>G

1 paper

NM_015665.6

p.T183S

c.547A>T

3 papers

NM_015665.6

p.S182Splc

c.546-2A>C

4 papers

NM_015665.6

p.A206delFs

c.618delG