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.S29R

c.87T>G

Surrounding Variants

1 paper

NM_015665.6

p.S29R

c.87T>A

1 paper

NM_015665.6

p.S29R

c.85A>C

1 paper

NM_015665.6

p.Y31insFs

c.92_93insA

4 papers

NM_015665.6

p.L25P

c.74T>C

1 paper

NM_015665.6

p.E24delFs

c.72delC

1 paper

NM_015665.6

p.P36S

c.106C>T

1 paper

NM_015665.6

p.P36insFs

c.108dupC

1 paper

NM_015665.6

p.D37N

c.109G>A

1 paper

NM_015665.6

p.N22S

c.65A>G

4 papers

NM_015665.6

p.H21Q

c.63C>G

1 paper

NM_015665.6

p.D37fs

c.109_110fs

4 papers

NM_015665.6

p.H21Q

c.63C>A