Varaico: Literature-Extracted Genetic Variants

Gene:DRC1
Variant:p.R554R

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.R554R
c.1660C>A
Surrounding Variants
5 papers
NM_145038.5
p.R554*
c.1660C>T
1 paper
NM_145038.5
p.S560F
c.1679C>T
3 papers
NM_145038.5
p.D541G
c.1622A>G
2 papers
NM_145038.5
p.I537delFs
c.1611delT
1 paper
NM_145038.5
p.I537fs
c.1609_1610fs
1 paper
NM_145038.5
p.S533_A534Splc
c.1600-1G>A
4 papers
NM_145038.5
p.S533_A534Splc
c.1599+1G>A
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
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