Varaico: Literature-Extracted Genetic Variants

Gene:ACTMAP
Variant:p.Q48delFs

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.Q48delFs
c.143delT
Surrounding Variants
1 paper
NM_198476.5
p.L58_P59insFs
c.174_175insA
1 paper
NM_198476.5
p.P59fs
c.175_176fs
2 papers
NM_198476.5
p.R70P
c.209G>C
1 paper
NM_198476.5
p.D86H
c.256G>C
1 paper
NM_198476.5
p.G111R
c.331G>C
1 paper
NM_198476.5
p.D121H
c.361G>C
1 paper
NM_198476.5
p.L122Q
c.365T>A
1 paper
NM_198476.5
p.I126V
c.376A>G
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.L143delFs
c.428_429delGA
1 paper
NM_198476.5
p.L143del1
c.427_428delGAG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."