Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF2

DNAAF2

112 papers

RefSeq Summary

This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to ...

Pfam Domains

PIH1aa 43–209UCSCPIH1 N-terminal domain
PIH1_CSaa 250–349UCSCPIH1 CS-like domain

Gene Aliases

HGNC Name

dynein axonemal assembly factor 2

HGNC Previous Symbol

C14orf104

Papers
RefSeq ID
Protein change
DNA change
1–12 of 146 variants
6 papers
NM_018139.3
p.S8*
c.23C>A
5 papers
NM_018139.3
p.Y52*
c.156C>G
5 papers
NM_018139.3
p.Y52*
c.156C>A
4 papers
NM_018139.3
p.S9*
c.26C>A
4 papers
NM_018139.3
p.A405_G406insFs
c.1215_1216ins16
3 papers
NM_018139.3
p.M1insFs
c.2dupT
3 papers
NM_018139.3
p.E158*
c.472G>T
3 papers
NM_018139.3
p.A333V
c.998C>T
3 papers
NM_018139.3
p.G406fs
c.1216_1217fs
3 papers
NM_018139.3
p.V631I
c.1891G>A
2 papers
NM_018139.3
p.A4T
c.10G>A
2 papers
NM_018139.3
p.E11fs
c.31_32fs
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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."