Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.E126Q

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.E126Q
c.376G>C
Surrounding Variants
1 paper
NM_145038.5
p.E126_V127delFs
c.378_379delAG
1 paper
NM_145038.5
p.D132_K133insFs
c.396_397insTC
1 paper
NM_145038.5
p.W141*
c.422G>A
1 paper
NM_145038.5
p.W141*
c.423G>A
1 paper
NM_145038.5
p.E143_K145del3
c.427_434del9
1 paper
NM_145038.5
p.E155K
c.463G>A
2 papers
NM_145038.5
p.L157R
c.470T>G
2 papers
NM_145038.5
p.A165A
c.495T>G
1 paper
NM_145038.5
p.L168*
c.503T>A
1 paper
NM_145038.5
p.L168*
c.503T>G
1 paper
NM_145038.5
p.D170G
c.509A>G
1 paper
NM_145038.5
p.E177K
c.529G>A
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