Varaico: Literature-Extracted Genetic Variants

Gene:CASTOR1
Variant:p.Y207S

CASTOR1

42 papers

Pfam Domains

Castor1_Naa 9–69UCSCCytosolic arginine sensor for mTORC1 subunit 1 N-terminal domain
ACT_7aa 71–139UCSCACT domain
CASTOR1_ACT-likeaa 175–258UCSCCytosolic arginine sensor for mTORC1 subunit 1/2, ACT-like
ACT_7aa 258–322UCSCACT domain

Gene Aliases

HGNC Name

cytosolic arginine sensor for mTORC1 subunit 1

HGNC Previous Symbol

GATSL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001037666.3
p.Y207S
c.620A>C
Surrounding Variants
1 paper
NM_001037666.3
p.A198P
c.592G>C
1 paper
NM_001037666.3
p.A196T
c.586G>A
2 papers
NM_001037666.3
p.T193M
c.578C>T
2 papers
NM_001037666.3
p.E192K
c.574G>A
1 paper
NM_001037666.3
p.E146K
c.436G>A
1 paper
NM_001037666.3
p.T136M
c.407C>T
1 paper
NM_001037666.3
p.V132M
c.394G>A
1 paper
NM_001037666.3
p.K213R
c.638A>G
1 paper
NM_001037666.3
p.A215T
c.643G>A
1 paper
NM_001037666.3
p.T226M
c.677C>T
1 paper
NM_001037666.3
p.I237insFs
c.709_710dupAT
7 papers
NM_001037666.3
p.D121A
c.362A>C
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