Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.S533_A534Splc

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
4 papers
NM_145038.5
p.S533_A534Splc
c.1599+1G>A
Surrounding Variants
1 paper
NM_145038.5
p.A530D
c.1589C>A
1 paper
NM_145038.5
p.A530T
c.1588G>A
2 papers
NM_145038.5
p.D529N
c.1585G>A
1 paper
NM_145038.5
p.L525V
c.1573C>G
1 paper
NM_145038.5
p.L514L
c.1542T>C
1 paper
NM_145038.5
p.S513G
c.1537A>G
1 paper
NM_145038.5
p.E508fs
c.1522_1523fs
1 paper
NM_145038.5
p.I507_E508delFs
c.1521_1524del4
2 papers
NM_145038.5
p.I507L
c.1519A>C
2 papers
NM_145038.5
p.I507L
c.1519A>T
1 paper
NM_145038.5
p.S533_A534Splc
c.1600-1G>A
2 papers
NM_145038.5
p.I537delFs
c.1611delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."