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.V310D

c.929T>A

Surrounding Variants

1 paper

NM_015665.6

p.V310_F311delFs

c.928_931del4

8 papers

NM_015665.6

p.R312*

c.934C>T

1 paper

NM_015665.6

p.R312Splc

c.935+1G>A

1 paper

NM_015665.6

p.S308fs

c.922_923fs

2 papers

NM_015665.6

p.L303Q

c.908T>A

1 paper

NM_015665.6

p.I302Fs

c.904_905delinsGFs

1 paper

NM_015665.6

p.I302fs

c.904_905fs

1 paper

NM_015665.6

p.K301N

c.903A>T

2 papers

NM_015665.6

p.K301N

c.903A>C

1 paper

NM_015665.6

p.K301R

c.902A>G

1 paper

NM_015665.6

p.S300_K301delins

c.899_901delinsTCT

1 paper

NM_015665.6

p.S300fs

c.898_899fs