Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.K241*

DRC1

151 papers

RefSeq Summary

This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug...

Pfam Domains

NYD-SP28aa 99–200UCSCSperm tail
NYD-SP28_assocaa 660–719UCSCSperm tail C-terminal domain

Gene Aliases

HGNC Name

dynein regulatory complex subunit 1

HGNC Previous Symbols

C2orf39; CCDC164

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145038.5
p.K241*
c.721A>T
Surrounding Variants
1 paper
NM_145038.5
p.S239insFs
c.715dupA
6 papers
NM_145038.5
p.W244*
c.731G>A
5 papers
NM_145038.5
p.W244*
c.732G>A
1 paper
NM_145038.5
p.K227insFs
c.680dupA
1 paper
NM_145038.5
p.E255_L256Splc
c.765+1G>T
1 paper
NM_145038.5
p.E226_K227Splc
c.679-4G>T
1 paper
NM_145038.5
p.E226_K227Splc
c.679-197G>A
1 paper
NM_145038.5
p.E226_K227Splc
c.678+38A>G
1 paper
NM_145038.5
p.E226del1
c.676_677delGAG
1 paper
NM_145038.5
p.I225insFs
c.673dupA
1 paper
NM_145038.5
p.E221fs
c.661_662fs
1 paper
NM_145038.5
p.V266_E267insFs
c.797_801dup5
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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."