Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.E111*

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.E111*
c.331G>T
Surrounding Variants
2 papers
NM_145038.5
p.E111K
c.331G>A
1 paper
NM_145038.5
p.E112V
c.335A>T
1 paper
NM_145038.5
p.E114K
c.340G>A
1 paper
NM_145038.5
p.K116_Q118del0
c.346_354del9
1 paper
NM_145038.5
p.R117C
c.349C>T
3 papers
NM_145038.5
p.R117H
c.350G>A
1 paper
NM_145038.5
p.Q118K
c.352C>A
22 papers
NM_145038.5
p.Q118*
c.352C>T
1 paper
NM_145038.5
p.I101insFs
c.302dupT
1 paper
NM_145038.5
p.A100A
c.300T>A
1 paper
NM_145038.5
p.V99M
c.295G>A
1 paper
NM_145038.5
p.E126Q
c.376G>C
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