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

41 papers

NM_015665.6

p.S263P

c.787T>C

Surrounding Variants

2 papers

NM_015665.6

p.S263A

c.787T>G

3 papers

NM_015665.6

p.S263L

c.788C>T

1 paper

NM_015665.6

p.P264S

c.790C>T

1 paper

NM_015665.6

p.P264L

c.791C>T

1 paper

NM_015665.6

p.L260P

c.779T>C

1 paper

NM_015665.6

p.R258fs

c.772_773fs

2 papers

NM_015665.6

p.R258fs

c.772_773fs

1 paper

NM_015665.6

p.R258W

c.772C>T

9 papers

NM_015665.6

p.G257delFs

c.771delC

1 paper

NM_015665.6

p.G256G

c.768G>T

2 papers

NM_015665.6

p.G256W

c.766G>T

2 papers

NM_015665.6

p.S255insFs

c.765dupT