Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL1
Variant:p.L1167M

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.L1167M
c.3499C>A
Surrounding Variants
1 paper
NM_017640.6
p.Q1161K
c.3481C>A
1 paper
NM_017640.6
p.G1159E
c.3476G>A
1 paper
NM_017640.6
p.G1159R
c.3475G>A
1 paper
NM_017640.6
p.G1159R
c.3475G>C
1 paper
NM_017640.6
p.A1113V
c.3338C>T
1 paper
NM_017640.6
p.T1089I
c.3266C>T
1 paper
NM_017640.6
p.R1082Q
c.3245G>A
1 paper
NM_017640.6
p.K1066R
c.3197A>G
1 paper
NM_017640.6
p.K1059R
c.3176A>G
1 paper
NM_017640.6
p.H1050L
c.3149A>T
1 paper
NM_017640.6
p.V1191I
c.3571G>A
2 papers
NM_017640.6
p.G1202S
c.3604G>A
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