Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.A538T

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
6 papers
NM_012144.4
p.A538T
c.1612G>A
Surrounding Variants
1 paper
NM_012144.4
p.Y536C
c.1607A>G
1 paper
NM_012144.4
p.T545I
c.1634C>T
4 papers
NM_012144.4
p.W548*
c.1643G>A
6 papers
NM_012144.4
p.W548*
c.1644G>A
1 paper
NM_012144.4
p.T553_F556del0
c.1657_1668del12
1 paper
NM_012144.4
p.F556S
c.1667T>C
1 paper
NM_012144.4
p.C559Y
c.1676G>A
1 paper
NM_012144.4
p.D562N
c.1684G>A
2 papers
NM_012144.4
p.W568*
c.1703G>A
3 papers
NM_012144.4
p.W568S
c.1703G>C
2 papers
NM_012144.4
p.W568*
c.1704G>A
1 paper
NM_012144.4
p.D569_H570del2
c.1705_1709del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."