Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.R80*

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
5 papers
NM_145038.5
p.R80*
c.238C>T
Surrounding Variants
2 papers
NM_145038.5
p.R80Q
c.239G>A
1 paper
NM_145038.5
p.S70N
c.209G>A
1 paper
NM_145038.5
p.S70fs
c.208_209fs
1 paper
NM_145038.5
p.Q69*
c.205C>T
1 paper
NM_145038.5
p.E64E
c.192G>A
1 paper
NM_145038.5
p.L59L
c.175T>C
1 paper
NM_145038.5
p.E57K
c.169G>A
2 papers
NM_145038.5
p.E53fs
c.157_158fs
1 paper
NM_145038.5
p.V99M
c.295G>A
1 paper
NM_145038.5
p.A100A
c.300T>A
1 paper
NM_145038.5
p.I101insFs
c.302dupT
2 papers
NM_145038.5
p.E111K
c.331G>A
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