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

43 papers

NM_015665.6

p.C444Splc

c.1331+1G>A

Surrounding Variants

1 paper

NM_015665.6

p.C444Splc

c.1331+1G>T

3 papers

NM_015665.6

p.P437delFs

c.1310_1311delAG

1 paper

NM_015665.6

p.P437fs

c.1309_1310fs

2 papers

NM_015665.6

p.P437fs

c.1309_1310fs

1 paper

NM_015665.6

p.N435fs

c.1303_1304fs

5 papers

NM_015665.6

p.N435delFs

c.1304delT

3 papers

NM_015665.6

p.R434Q

c.1301G>A

3 papers

NM_015665.6

p.R434*

c.1300C>T

1 paper

NM_015665.6

p.T433insFs

c.1297_1298insA

2 papers

NM_015665.6

p.F431_R432Fs

c.1292_1294delinsAFs

1 paper

NM_001173466.2

p.L397_F398insFs

c.1191_1192insA

7 papers

NM_015665.6

p.L430F

c.1288C>T