Varaico: Literature-Extracted Genetic Variants

Gene:CASTOR1
Variant:p.D292A

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
1 paper
NM_001037666.3
p.D292A
c.875A>C
Surrounding Variants
10 papers
NM_001037666.3
p.D304A
c.911A>C
1 paper
NM_001037666.3
p.L307R
c.920T>G
1 paper
NM_001037666.3
p.E277A
c.830A>C
1 paper
NM_001037666.3
p.L307_V308Splc
c.921+2T>G
1 paper
NM_001037666.3
p.D276A
c.827A>C
1 paper
NM_001037666.3
p.F275F
c.825T>C
1 paper
NM_001037666.3
p.Q271*
c.811C>T
1 paper
NM_001037666.3
p.G269C
c.805G>T
1 paper
NM_001037666.3
p.E261A
c.782A>C
1 paper
NM_001037666.3
p.G260E
c.779G>A
1 paper
NM_001037666.3
p.R322W
c.964C>T
1 paper
NM_001037666.3
p.I237insFs
c.709_710dupAT
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