Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.L18W

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.L18W
c.53T>G
Surrounding Variants
1 paper
NM_145038.5
p.S19F
c.56C>T
1 paper
NM_145038.5
p.E16G
c.47A>G
1 paper
NM_145038.5
p.S26W
c.77C>G
1 paper
NM_145038.5
p.G5E
c.14G>A
1 paper
NM_145038.5
p.M1T
c.2T>C
1 paper
NM_145038.5
p.M1insFs
c.2_3insC
1 paper
NM_145038.5
p.M1insFs
c.3dupG
3 papers
NM_145038.5
p.M1insFs
c.2dupT
1 paper
NM_145038.5
p.M1delFs
c.2delT
3 papers
NM_145038.5
p.Q37insFs
c.109dupC
2 papers
NM_145038.5
p.Q37fs
c.109_110fs
1 paper
NM_145038.5
p.E48_A49del1
c.143_145delAAG
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