Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.P9L

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.P9L
c.26C>T
Surrounding Variants
4 papers
NM_012144.4
p.A8S
c.22G>T
1 paper
NM_012144.4
p.K11delFs
c.33delA
1 paper
NM_012144.4
p.K15*
c.43A>T
1 paper
NM_012144.4
p.A4_K7del4
c.10_20del12
1 paper
NM_012144.4
p.Q16R
c.47A>G
2 papers
NM_012144.4
p.I2_P3insT
c.4_8ins3
1 paper
NM_012144.4
p.I2V
c.4A>G
1 paper
NM_012144.4
p.M1I
c.3G>A
1 paper
NM_012144.4
p.M1I
c.3G>C
3 papers
NM_012144.4
p.M1_I2insFs
c.3_4insT
1 paper
NM_012144.4
p.M1I
c.3G>T
1 paper
NM_012144.4
p.I2_P3delFs
c.4_7del4
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