Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3
Variant:p.A185S

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.A185S
c.553G>T
Surrounding Variants
1 paper
NM_138360.4
p.N188K
c.564C>A
1 paper
NM_138360.4
p.N188K
c.564C>G
1 paper
NM_138360.4
p.R189Q
c.566G>A
1 paper
NM_138360.4
p.A162fs
c.484_485fs
1 paper
NM_138360.4
p.A162delFs
c.484delG
1 paper
NM_138360.4
p.G254R
c.760G>A
1 paper
NM_138360.4
p.G254R
c.760G>C
1 paper
NM_138360.4
p.A129T
c.385G>A
1 paper
NM_138360.4
p.D103V
c.308A>T
1 paper
NM_138360.4
p.V85G
c.254T>G
1 paper
NM_138360.4
p.V274A
c.821T>C
1 paper
NM_138360.4
p.K288N
c.864G>C
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