Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.Q196*

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.Q196*
c.586C>T
Surrounding Variants
1 paper
NM_145038.5
p.K195delFs
c.585delA
1 paper
NM_145038.5
p.L193L
c.577T>C
1 paper
NM_145038.5
p.C201_L202insFs
c.603_604insG
1 paper
NM_145038.5
p.L202Q
c.605T>A
1 paper
NM_145038.5
p.Q188*
c.562C>T
1 paper
NM_145038.5
p.E205V
c.614A>T
1 paper
NM_145038.5
p.R206delFs
c.616delC
1 paper
NM_145038.5
p.D186N
c.556G>A
1 paper
NM_145038.5
p.Q210delFs
c.630delG
1 paper
NM_145038.5
p.L182insFs
c.545dupT
1 paper
NM_145038.5
p.M215insFs
c.644dupT
1 paper
NM_145038.5
p.R219C
c.655C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."