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

1–12 of 288 variants

44 papers

NM_015665.6

p.Q15K

c.43C>A

43 papers

NM_015665.6

p.C444Splc

c.1331+1G>A

41 papers

NM_015665.6

p.S263P

c.787T>C

28 papers

NM_015665.6

p.R478*

c.1432C>T

20 papers

NM_015665.6

p.R342*

c.1024C>T

20 papers

NM_015665.6

p.Q387*

c.1159C>T

19 papers

NM_015665.6

p.R286*

c.856C>T

17 papers

NM_015665.6

p.R194*

c.580C>T

16 papers

NM_015665.6

p.W84*

c.251G>A

16 papers

NM_015665.6

p.W84*

c.252G>A

14 papers

NM_015665.6

p.G14fs

c.40_41fs

14 papers

NM_015665.6

p.R155H

c.464G>A