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

4 papers

NM_015665.6

p.H21Q

c.63C>A

Surrounding Variants

4 papers

NM_015665.6

p.H21Q

c.63C>G

1 paper

NM_015665.6

p.N22S

c.65A>G

7 papers

NM_015665.6

p.Y19_E20delFs

c.57_58delCA

5 papers

NM_015665.6

p.Y19*

c.57T>G

5 papers

NM_015665.6

p.Y19*

c.57T>A

2 papers

NM_015665.6

p.Y19C

c.56A>G

1 paper

NM_015665.6

p.E24delFs

c.72delC

4 papers

NM_015665.6

p.L25P

c.74T>C

3 papers

NM_015665.6

p.Q15*

c.43C>T

44 papers

NM_015665.6

p.Q15K

c.43C>A

14 papers

NM_015665.6

p.G14fs

c.40_41fs

1 paper

NM_015665.6

p.S29R

c.85A>C