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

1 paper

NM_015665.6

p.C213S

c.638G>C

Surrounding Variants

1 paper

NM_015665.6

p.C213S

c.637T>A

1 paper

NM_015665.6

p.Q214Q

c.642G>A

1 paper

NM_015665.6

p.L209F

c.627G>T

1 paper

NM_015665.6

p.L209F

c.627G>C

2 papers

NM_015665.6

p.S207fs

c.619_620fs

4 papers

NM_015665.6

p.A206delFs

c.618delG

2 papers

NM_015665.6

p.S207fs

c.619_620fs

2 papers

NM_001173466.2

p.A167V

c.500C>T

NM_015665.6

p.A200V

c.599C>T

1 paper

NM_015665.6

p.S226S

c.678C>T

6 papers

NM_015665.6

p.R230*

c.688C>T

3 papers

NM_015665.6

p.R230Q

c.689G>A

3 papers

NM_015665.6

p.R230Splc

c.689+1G>A