Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL1
Variant:p.G1202S

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
2 papers
NM_017640.6
p.G1202S
c.3604G>A
Surrounding Variants
1 paper
NM_017640.6
p.E1204K
c.3610G>A
1 paper
NM_017640.6
p.S1206L
c.3617C>T
1 paper
NM_017640.6
p.V1191I
c.3571G>A
1 paper
NM_017640.6
p.V1212Splc
c.3635-1G>A
1 paper
NM_017640.6
p.P1217T
c.3649C>A
1 paper
NM_017640.6
p.R1223C
c.3667C>T
1 paper
NM_017640.6
p.A1239A
c.3717G>A
1 paper
NM_017640.6
p.Q1260K
c.3778C>A
1 paper
NM_017640.6
p.R1277*
c.3829A>T
1 paper
NM_017640.6
p.L1167M
c.3499C>A
1 paper
NM_017640.6
p.Q1161K
c.3481C>A
1 paper
NM_017640.6
p.G1159E
c.3476G>A
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