Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL1
Variant:p.E14Splc

CARMIL1

73 papers

Pfam Domains

Carm_PHaa 26–119UCSCCarmil pleckstrin homology domain
LRR_6aa 569–592UCSCLeucine Rich repeat
CARMIL_Caa 786–1081UCSCCARMIL C-terminus

Gene Aliases

HGNC Name

capping protein regulator and myosin 1 linker 1

HGNC Previous Symbols

LRRC16; LRRC16A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017640.6
p.E14Splc
c.40+5G>T
Surrounding Variants
1 paper
NM_017640.6
p.P9ins2
c.26_27ins6
1 paper
NM_017640.6
p.I26_S27ins6
c.76_80ins18
1 paper
NM_017640.6
p.V28A
c.83T>C
1 paper
NM_017640.6
p.K40fs
c.118_119fs
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