Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.G497Splc

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.G497Splc
c.1489+5G>A
Surrounding Variants
1 paper
NM_012144.4
p.G497D
c.1490G>A
1 paper
NM_012144.4
p.V487G
c.1460T>G
1 paper
NM_012144.4
p.T485M
c.1454C>T
1 paper
NM_012144.4
p.I473V
c.1417A>G
1 paper
NM_012144.4
p.G497Splc
c.1489+130G>A
1 paper
NM_012144.4
p.K467_R468Splc
c.1401+1G>A
1 paper
NM_012144.4
p.G458S
c.1372G>A
1 paper
NM_012144.4
p.V454E
c.1361T>A
1 paper
NM_012144.4
p.L449_N450delFs
c.1345_1349del5
2 papers
NM_012144.4
p.G497D
c.1490G>A
1 paper
NM_012144.4
p.F504L
c.1510T>C
1 paper
NM_012144.4
p.F504L
c.1512C>A
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