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

19 papers

NM_015665.6

p.R286*

c.856C>T

Surrounding Variants

1 paper

NM_015665.6

p.R286L

c.857G>T

2 papers

NM_015665.6

p.F285F

c.855C>T

1 paper

NM_015665.6

p.W284delFs

c.852delC

1 paper

NM_015665.6

p.W284fs

c.850_851fs

1 paper

NM_015665.6

p.W284fs

c.850_851fs

1 paper

NM_015665.6

p.G289G

c.867G>T

4 papers

NM_015665.6

p.V290A

c.869T>C

1 paper

NM_001173466.2

p.V257delFs

c.771delC

2 papers

NM_015665.6

p.L294delFs

c.881delA

12 papers

NM_015665.6

p.W295*

c.884G>A

13 papers

NM_015665.6

p.W295*

c.885G>A

1 paper

NM_001173466.2

p.S263P

c.787T>C