Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.T71S

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.T71S
c.211A>T
Surrounding Variants
1 paper
NM_012144.4
p.R68Q
c.203G>A
1 paper
NM_012144.4
p.R68R
c.202C>A
1 paper
NM_012144.4
p.P75_N80insFs
c.224_240dup17
1 paper
NM_012144.4
p.T67I
c.200C>T
1 paper
NM_012144.4
p.H76H
c.228C>T
1 paper
NM_012144.4
p.N80D
c.238A>G
1 paper
NM_012144.4
p.V82delFs
c.245delT
1 paper
NM_012144.4
p.K87_E88Splc
c.261+5G>T
1 paper
NM_012144.4
p.K87_E88Splc
c.261+131C>T
3 papers
NM_012144.4
p.A60A
c.180G>A
1 paper
NM_012144.4
p.L57del1
c.169_171delTTG
1 paper
NM_012144.4
p.P52delFs
c.156delT
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