Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3
Variant:p.A572A

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.A572A
c.1716C>T
Surrounding Variants
1 paper
NM_138360.4
p.L554L
c.1662G>A
1 paper
NM_138360.4
p.R553Q
c.1658G>A
1 paper
NM_138360.4
p.R553W
c.1657C>T
1 paper
NM_138360.4
p.L593_Q594delFs
c.1779_1780delGC
1 paper
NM_138360.4
p.Q594fs
c.1780_1781fs
1 paper
NM_138360.4
p.Q594insFs
c.1781_1782insAG
1 paper
NM_138360.4
p.I595fs
c.1783_1784fs
1 paper
NM_138360.4
p.S546L
c.1637C>T
2 papers
NM_138360.4
p.Q545E
c.1633C>G
1 paper
NM_138360.4
p.V501M
c.1501G>A
1 paper
NM_138360.4
p.P633fs
c.1897_1898fs
1 paper
NM_138360.4
p.P633_V634insFs
c.1899_1900insCT
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