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

3 papers

NM_015665.6

p.G367delFs

c.1101delC

Surrounding Variants

2 papers

NM_015665.6

p.C368fs

c.1102_1103fs

1 paper

NM_015665.6

p.C368fs

c.1102_1103fs

2 papers

NM_015665.6

p.V369fs

c.1105_1106fs

4 papers

NM_015665.6

p.V369insFs

c.1105_1106insC

1 paper

NM_015665.6

p.G363Splc

c.1088-2A>G

11 papers

NM_015665.6

p.L381R

c.1142T>G

5 papers

NM_015665.6

p.S382fs

c.1144_1145fs

1 paper

NM_015665.6

p.S382fs

c.1144_1145fs

8 papers

NM_015665.6

p.S382_E383delFs

c.1144_1147del4

1 paper

NM_015665.6

p.E383delFs

c.1148_1149delCT

20 papers

NM_015665.6

p.Q387*

c.1159C>T

1 paper

NM_015665.6

p.D380_T388delFs

c.1140_1162del23