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

20 papers

NM_015665.6

p.R342*

c.1024C>T

Surrounding Variants

3 papers

NM_015665.6

p.L344Q

c.1031T>A

1 paper

NM_015665.6

p.G349_E350delFs

c.1045_1048del4

1 paper

NM_015665.6

p.Q332_T333Splc

c.997-2A>G

1 paper

NM_015665.6

p.P351delFs

c.1052delG

5 papers

NM_015665.6

p.I353T

c.1058T>C

2 papers

NM_015665.6

p.Y354_S355insFs

c.1062_1063insAC

1 paper

NM_015665.6

p.S355fs

c.1063_1064fs

1 paper

NM_015665.6

p.S355insFs

c.1063_1064insT

1 paper

NM_015665.6

p.V347_S355delFs

c.1041_1063del23

4 papers

NM_015665.6

p.L356fs

c.1066_1067fs

1 paper

NM_015665.6

p.L356delFs

c.1066delG

5 papers

NM_015665.6

p.L356fs

c.1066_1067fs