Varaico: Literature-Extracted Genetic Variants

Gene:DRC7
Variant:p.E142*

DRC7

63 papers

Pfam Domains

CEPT76_peptidaseaa 297–374UCSCCEP76 peptidase-like domain
CEPT76_peptidaseaa 297–374UCSCCEP76 peptidase-like domain
MORN_DRC7aa 433–715UCSCDynein regulatory complex subunit 7 MORN domain
DRC7_Caa 762–870UCSCDynein regulatory complex subunit 7 C-terminal

Gene Aliases

HGNC Name

dynein regulatory complex subunit 7

HGNC Previous Symbols

C16orf50; CCDC135

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001289162.2
p.E142*
c.424G>T
Surrounding Variants
1 paper
NM_001289162.2
p.T136K
c.407C>A
1 paper
NM_001289162.2
p.L133F
c.397C>T
1 paper
NM_001289162.2
p.S130R
c.390C>A
1 paper
NM_001289162.2
p.S130R
c.390C>G
1 paper
NM_001289162.2
p.S130R
c.388A>C
1 paper
NM_001289162.2
p.S154C
c.461C>G
1 paper
NM_001289162.2
p.E122K
c.364G>A
1 paper
NM_001289162.2
p.C109C
c.327C>T
1 paper
NM_001289162.2
p.S175L
c.524C>T
3 papers
NM_001289162.2
p.C186S
c.556T>A
3 papers
NM_001289162.2
p.C186S
c.557G>C
1 paper
NM_001289162.2
p.L213Q
c.638T>A
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