Varaico: Literature-Extracted Genetic Variants

Gene:ACTMAP
Variant:p.L143del1

ACTMAP

19 papers

Pfam Domains

ACTMAP-like_Caa 122–242UCSCActin maturation protease-like, C-terminal domain

Gene Aliases

HGNC Name

actin maturation protease

HGNC Previous Symbol

C19orf54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_198476.5
p.L143del1
c.427_428delGAG
Surrounding Variants
1 paper
NM_198476.5
p.L143delFs
c.428_429delGA
1 paper
NM_198476.5
p.G133R
c.397G>C
1 paper
NM_198476.5
p.G133R
c.397G>A
1 paper
NM_198476.5
p.T165M
c.494C>T
1 paper
NM_198476.5
p.A174_D175insA
c.520_524ins3
1 paper
NM_198476.5
p.I126V
c.376A>G
1 paper
NM_198476.5
p.L122Q
c.365T>A
1 paper
NM_198476.5
p.D121H
c.361G>C
1 paper
NM_198476.5
p.G111R
c.331G>C
1 paper
NM_198476.5
p.L214I
c.640C>A
1 paper
NM_198476.5
p.I215N
c.644T>A
1 paper
NM_198476.5
p.R228K
c.683G>A
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