Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.R247Q

DNAI2

140 papers

RefSeq Summary

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with ...

Pfam Domains

WD40aa 354–392UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein axonemal intermediate chain 2

HGNC Alias Symbols

CILD9; DIC2; oda6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_023036.6
p.R247Q
c.740G>A
Surrounding Variants
2 papers
NM_023036.6
p.R247*
c.739C>T
1 paper
NM_023036.6
p.S250R
c.748A>C
1 paper
NM_023036.6
p.S250R
c.750C>A
1 paper
NM_023036.6
p.S250R
c.750C>G
1 paper
NM_023036.6
p.V252M
c.754G>A
1 paper
NM_023036.6
p.T257S
c.769A>T
1 paper
NM_023036.6
p.T257S
c.770C>G
8 papers
NM_023036.6
p.R263*
c.787C>T
1 paper
NM_023036.6
p.T269I
c.806C>T
1 paper
NM_023036.6
p.T278T
c.834C>T
1 paper
NM_023036.6
p.E279K
c.835G>A
1 paper
NM_023036.6
p.S282_A283ins4
c.844_848ins12
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