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

16 papers

NM_015665.6

p.W84*

c.252G>A

Surrounding Variants

16 papers

NM_015665.6

p.W84*

c.251G>A

1 paper

NM_015665.6

p.D86E

c.258T>G

1 paper

NM_015665.6

p.D86E

c.258T>A

1 paper

NM_015665.6

p.V87L

c.259G>T

1 paper

NM_015665.6

p.V87L

c.259G>C

1 paper

NM_015665.6

p.L89F

c.265C>T

1 paper

NM_015665.6

p.F90L

c.268T>C

2 papers

NM_015665.6

p.F90fs

c.268_269fs

1 paper

NM_015665.6

p.F90fs

c.268_269fs

1 paper

NM_015665.6

p.F90L

c.270T>G

1 paper

NM_015665.6

p.F90L

c.270T>A

1 paper

NM_015665.6

p.V103Splc

c.307+1G>T