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

13 papers

NM_015665.6

p.W295*

c.885G>A

Surrounding Variants

1 paper

NM_001173466.2

p.S263P

c.787T>C

12 papers

NM_015665.6

p.W295*

c.884G>A

1 paper

NM_001173466.2

p.S263F

c.788C>T

7 papers

NM_015665.6

p.S296Y

c.887C>A

2 papers

NM_015665.6

p.L294delFs

c.881delA

1 paper

NM_015665.6

p.P297S

c.889C>T

1 paper

NM_015665.6

p.S300fs

c.898_899fs

1 paper

NM_001173466.2

p.V257delFs

c.771delC

4 papers

NM_015665.6

p.V290A

c.869T>C

1 paper

NM_015665.6

p.S300_K301delins

c.899_901delinsTCT

1 paper

NM_015665.6

p.K301R

c.902A>G

1 paper

NM_015665.6

p.G289G

c.867G>T