Varaico: Literature-Extracted Genetic Variants

Gene:DRC5
Variant:p.R480Q

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.R480Q
c.1439G>A
Surrounding Variants
1 paper
NM_182539.4
p.E463K
c.1387G>A
1 paper
NM_182539.4
p.V458L
c.1372G>T
1 paper
NM_182539.4
p.V458L
c.1372G>C
2 papers
NM_182539.4
p.R454C
c.1360C>T
1 paper
NM_182539.4
p.G431G
c.1293G>A
1 paper
NM_182539.4
p.A415T
c.1243G>A
1 paper
NM_182539.4
p.Q412H
c.1236G>T
1 paper
NM_182539.4
p.Q412H
c.1236G>C
1 paper
NM_182539.4
p.H396_L397insTC
c.1186_1190ins6
1 paper
NM_182539.4
p.L386L
c.1156T>C
1 paper
NM_182539.4
p.E375K
c.1123G>A
2 papers
NM_182539.4
p.R370H
c.1109G>A
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