Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.G519R

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.G519R
c.1555G>A
Surrounding Variants
1 paper
NM_012144.4
p.I521S
c.1562T>G
1 paper
NM_012144.4
p.Y522insFs
c.1564dupT
1 paper
NM_012144.4
p.G515A
c.1544G>C
8 papers
NM_012144.4
p.G515S
c.1543G>A
1 paper
NM_012144.4
p.L513P
c.1538T>C
1 paper
NM_012144.4
p.K523_C524Splc
c.1569+4A>G
2 papers
NM_012144.4
p.F512S
c.1535T>C
1 paper
NM_012144.4
p.F504L
c.1512C>A
1 paper
NM_012144.4
p.F504L
c.1512C>G
1 paper
NM_012144.4
p.F504L
c.1510T>C
2 papers
NM_012144.4
p.G497D
c.1490G>A
1 paper
NM_012144.4
p.G497Splc
c.1489+130G>A
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