Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL3
Variant:p.G1161R

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.G1161R
c.3481G>C
Surrounding Variants
1 paper
NM_138360.4
p.G1161R
c.3481G>A
3 papers
NM_138360.4
p.G1161V
c.3482G>T
1 paper
NM_138360.4
p.P1160S
c.3478C>T
1 paper
NM_138360.4
p.R1164I
c.3491G>T
1 paper
NM_138360.4
p.R1129H
c.3386G>A
1 paper
NM_138360.4
p.R1129C
c.3385C>T
1 paper
NM_138360.4
p.E1111Fs
c.3333delinsGAFs
1 paper
NM_138360.4
p.E1111Fs
c.3332delinsATFs
1 paper
NM_138360.4
p.P1097H
c.3290C>A
1 paper
NM_138360.4
p.P1084H
c.3251C>A
1 paper
NM_138360.4
p.R1062W
c.3184C>T
1 paper
NM_138360.4
p.Q1048K
c.3142C>A
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