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

1 paper

NM_015665.6

p.S182N

c.545G>A

Surrounding Variants

2 papers

NM_015665.6

p.R176insFs

c.526dupC

1 paper

NM_015665.6

p.V175F

c.523G>T

2 papers

NM_015665.6

p.D173V

c.518A>T

12 papers

NM_015665.6

p.A167V

c.500C>T

1 paper

NM_015665.6

p.A167E

c.500C>A

1 paper

NM_015665.6

p.P161S

c.481C>T

14 papers

NM_015665.6

p.H160R

c.479A>G

2 papers

NM_015665.6

p.H160P

c.479A>C

5 papers

NM_015665.6

p.F157delFs

c.470_471delAA

4 papers

NM_015665.6

p.F157fs

c.469_470fs

2 papers

NM_015665.6

p.F157fs

c.469_470fs

5 papers

NM_015665.6

p.R155P

c.464G>C