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

8 papers

NM_015665.6

p.W474*

c.1422G>A

Surrounding Variants

3 papers

NM_015665.6

p.W474C

c.1422G>T

3 papers

NM_015665.6

p.W474C

c.1422G>C

8 papers

NM_015665.6

p.W474*

c.1421G>A

28 papers

NM_015665.6

p.R478*

c.1432C>T

1 paper

NM_015665.6

p.R478Q

c.1433G>A

1 paper

NM_015665.6

p.A480fs

c.1438_1439fs

12 papers

NM_015665.6

p.I482S

c.1445T>G

2 papers

NM_015665.6

p.P483L

c.1448C>T

1 paper

NM_015665.6

p.L484V

c.1450C>G

2 papers

NM_015665.6

p.Q490*

c.1468C>T

1 paper

NM_015665.6

p.R493C

c.1477C>T

1 paper

NM_015665.6

p.R500W

c.1498C>T