Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF4
Variant:p.K394ins2

DNAAF4

145 papers

RefSeq Summary

This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat...

Pfam Domains

CSaa 6–77UCSCCS domain

Gene Aliases

HGNC Name

dynein axonemal assembly factor 4

HGNC Previous Symbol

DYX1C1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_130810.4
p.K394ins2
c.1180_1181ins6
Surrounding Variants
1 paper
NM_130810.4
p.K394T
c.1181A>C
5 papers
NM_130810.4
p.E390_L393del4
c.1168_1178del12
1 paper
NM_130810.4
p.P397ins1
c.1189_1190insCAC
1 paper
NM_130810.4
p.G385Splc
c.1154-3C>G
1 paper
NM_130810.4
p.A406T
c.1216G>A
2 papers
NM_130810.4
p.R410W
c.1228C>T
1 paper
NM_130810.4
p.V412delFs
c.1235delA
1 paper
NM_130810.4
p.I413ins2
c.1237_1238ins6
1 paper
NM_130810.4
p.Q414H
c.1242A>T
1 paper
NM_130810.4
p.Q414H
c.1242A>C
1 paper
NM_130810.4
p.G415_T416ins2
c.1245_1246ins6
25 papers
NM_130810.4
p.E417*
c.1249G>T
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