Varaico: Literature-Extracted Genetic Variants

Gene:DRC5
Variant:p.V246M

DRC5

49 papers

Pfam Domains

LRR_6aa 305–326UCSCLeucine Rich repeat
LRR_6aa 333–355UCSCLeucine Rich repeat
LRR_6aa 360–383UCSCLeucine Rich repeat
LRR_6aa 417–439UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

dynein regulatory complex subunit 5

HGNC Previous Symbol

TCTE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182539.4
p.V246M
c.736G>A
Surrounding Variants
1 paper
NM_182539.4
p.G253S
c.757G>A
1 paper
NM_182539.4
p.L237R
c.710T>G
1 paper
NM_182539.4
p.W258C
c.774G>T
1 paper
NM_182539.4
p.W258C
c.774G>C
2 papers
NM_182539.4
p.F261S
c.782T>C
1 paper
NM_182539.4
p.R266C
c.796C>T
1 paper
NM_182539.4
p.E222K
c.664G>A
1 paper
NM_182539.4
p.E221D
c.663G>T
1 paper
NM_182539.4
p.E221D
c.663G>C
1 paper
NM_182539.4
p.G218E
c.653G>A
1 paper
NM_182539.4
p.D213N
c.637G>A
1 paper
NM_182539.4
p.D210N
c.628G>A
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