Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.Y305*

DNAI1

155 papers

RefSeq Summary

This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the d...

Pfam Domains

WD40aa 379–416UCSCWD domain, G-beta repeat
WD40aa 534–573UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein axonemal intermediate chain 1

HGNC Alias Symbols

DIC1; PCD; CILD1; oda6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012144.4
p.Y305*
c.915T>G
Surrounding Variants
1 paper
NM_012144.4
p.D307N
c.919G>A
1 paper
NM_012144.4
p.D301E
c.903T>G
1 paper
NM_012144.4
p.D301Splc
c.902-10T>A
2 papers
NM_012144.4
p.V316insFs
c.947_948insG
1 paper
NM_012144.4
p.K331E
c.991A>G
5 papers
NM_012144.4
p.V335I
c.1003G>A
1 paper
NM_012144.4
p.V335F
c.1003G>T
1 paper
NM_012144.4
p.C339F
c.1016G>T
4 papers
NM_012144.4
p.W340Splc
c.1019+5G>C
1 paper
NM_012144.4
p.D301Splc
c.902-125G>T
1 paper
NM_012144.4
p.N341K
c.1023T>A
1 paper
NM_012144.4
p.N341K
c.1023T>G
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