Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3
Variant:p.E891del1

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
Selected Variant
1 paper
NM_138360.4
p.E891del1
c.2671_2672delGAG
Surrounding Variants
1 paper
NM_138360.4
p.T865T
c.2595G>A
1 paper
NM_138360.4
p.R858Q
c.2573G>A
1 paper
NM_138360.4
p.G925R
c.2773G>A
1 paper
NM_138360.4
p.G925R
c.2773G>C
1 paper
NM_138360.4
p.R980P
c.2939G>C
1 paper
NM_138360.4
p.P982insFs
c.2946dupC
1 paper
NM_138360.4
p.G819E
c.2456G>A
1 paper
NM_138360.4
p.R807Q
c.2420G>A
1 paper
NM_138360.4
p.L777M
c.2329C>A
1 paper
NM_138360.4
p.R1020W
c.3058A>T
1 paper
NM_138360.4
p.D764N
c.2290G>A
1 paper
NM_138360.4
p.A762delFs
c.2284delG
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