Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.V408M

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
3 papers
NM_012144.4
p.V408M
c.1222G>A
Surrounding Variants
3 papers
NM_012144.4
p.Y411S
c.1232A>C
1 paper
NM_012144.4
p.Y404*
c.1212T>A
1 paper
NM_012144.4
p.Y404*
c.1212T>G
1 paper
NM_012144.4
p.F422del1
c.1264_1265delTTC
3 papers
NM_012144.4
p.V393M
c.1177G>A
1 paper
NM_012144.4
p.I391T
c.1172T>C
3 papers
NM_012144.4
p.C388Y
c.1163G>A
1 paper
NM_012144.4
p.G429C
c.1285G>T
1 paper
NM_012144.4
p.V386I
c.1156G>A
1 paper
NM_012144.4
p.P434delFs
c.1301delC
1 paper
NM_012144.4
p.V435M
c.1303G>A
1 paper
NM_012144.4
p.W436*
c.1307G>A
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