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.L4M

c.10C>A

Surrounding Variants

1 paper

NM_015665.6

p.L4P

c.11T>C

1 paper

NM_015665.6

p.S3F

c.8C>T

1 paper

NM_015665.6

p.M1I

c.3G>T

6 papers

NM_015665.6

p.M1_C2insFs

c.3_4insT

1 paper

NM_015665.6

p.M1_C2insFs

c.3_4insTC

1 paper

NM_015665.6

p.M1I

c.3G>C

1 paper

NM_015665.6

p.M1I

c.3G>A

2 papers

NM_015665.6

p.M1K

c.2T>A

1 paper

NM_015665.6

p.P12delFs

c.35delG

3 papers

NM_015665.6

p.G14fs

c.40_41fs

14 papers

NM_015665.6

p.G14fs

c.40_41fs

3 papers

NM_015665.6

p.Q15*

c.43C>T