Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3

CARMIL3

77 papers

Pfam Domains

Carm_PHaa 25–118UCSCCarmil pleckstrin homology domain
LRR_6aa 567–590UCSCLeucine Rich repeat
CARMIL_Caa 778–1066UCSCCARMIL C-terminus

Gene Aliases

HGNC Name

capping protein regulator and myosin 1 linker 3

HGNC Previous Symbols

C14orf121; LRRC16B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
3 papers
NM_138360.4
p.G1161V
c.3482G>T
2 papers
NM_138360.4
p.S21R
c.61A>C
2 papers
NM_138360.4
p.S21R
c.63C>A
2 papers
NM_138360.4
p.S21R
c.63C>G
2 papers
NM_138360.4
p.Q545E
c.1633C>G
2 papers
NM_138360.4
p.P1361S
c.4081C>T
1 paper
NM_138360.4
p.M1K
c.2T>A
1 paper
NM_138360.4
p.R43R
c.129A>T
1 paper
NM_138360.4
p.V85G
c.254T>G
1 paper
NM_138360.4
p.D103V
c.308A>T
1 paper
NM_138360.4
p.A129T
c.385G>A
1 paper
NM_138360.4
p.A162delFs
c.484delG
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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."