Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3
Variant:p.G446D

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.G446D
c.1337G>A
Surrounding Variants
1 paper
NM_138360.4
p.R441Splc
c.1322+8G>T
1 paper
NM_138360.4
p.R441G
c.1321A>G
1 paper
NM_138360.4
p.V428I
c.1282G>A
1 paper
NM_138360.4
p.R400C
c.1198C>T
1 paper
NM_138360.4
p.R466H
c.1397G>A
1 paper
NM_138360.4
p.V501M
c.1501G>A
1 paper
NM_138360.4
p.D379G
c.1136A>G
2 papers
NM_138360.4
p.Q545E
c.1633C>G
1 paper
NM_138360.4
p.S546L
c.1637C>T
1 paper
NM_138360.4
p.R553W
c.1657C>T
1 paper
NM_138360.4
p.R553Q
c.1658G>A
1 paper
NM_138360.4
p.L554L
c.1662G>A
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