Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.Y687insFs

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.Y687insFs
c.2061dupC
Surrounding Variants
6 papers
NM_145038.5
p.K686*
c.2056A>T
1 paper
NM_145038.5
p.Q674R
c.2021A>G
2 papers
NM_145038.5
p.Q674*
c.2020C>T
1 paper
NM_145038.5
p.A664V
c.1991C>T
1 paper
NM_145038.5
p.E660G
c.1979A>G
1 paper
NM_145038.5
p.P645P
c.1935G>A
1 paper
NM_145038.5
p.R694T
c.2081G>C
1 paper
NM_145038.5
p.L699L
c.2095C>T
1 paper
NM_145038.5
p.L699L
c.2097G>A
1 paper
NM_145038.5
p.S702C
c.2104A>T
3 papers
NM_145038.5
p.S702I
c.2105G>T
3 papers
NM_145038.5
p.Q712*
c.2134C>T
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