Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.D418H

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.D418H
c.1252G>C
Surrounding Variants
1 paper
NM_145038.5
p.D420delFs
c.1259delA
1 paper
NM_145038.5
p.R421del1
c.1261_1262delAGG
1 paper
NM_145038.5
p.L412delFs
c.1235delT
1 paper
NM_145038.5
p.H424L
c.1271A>T
1 paper
NM_145038.5
p.H427R
c.1280A>G
4 papers
NM_145038.5
p.W432*
c.1295G>A
5 papers
NM_145038.5
p.W432*
c.1296G>A
1 paper
NM_145038.5
p.L403delFs
c.1208delT
3 papers
NM_145038.5
p.W402*
c.1206G>A
3 papers
NM_145038.5
p.W402*
c.1205G>A
1 paper
NM_145038.5
p.D436_F437delFs
c.1308_1311del4
8 papers
NM_145038.5
p.W399R
c.1195T>A
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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."