Varaico: Literature-Extracted Genetic Variants

Gene:CASTOR1

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
1–12 of 37 variants
10 papers
NM_001037666.3
p.D304A
c.911A>C
7 papers
NM_001037666.3
p.D121A
c.362A>C
5 papers
NM_001037666.3
p.S111A
c.331T>G
2 papers
NM_001037666.3
p.E192K
c.574G>A
2 papers
NM_001037666.3
p.T193M
c.578C>T
2 papers
NM_001037666.3
p.Y207S
c.620A>C
1 paper
NM_001037666.3
p.H8_R9ins8
c.24_25ins24
1 paper
NM_001037666.3
p.L22R
c.65T>G
1 paper
NM_001037666.3
p.K29R
c.86A>G
1 paper
NM_001037666.3
p.L31F
c.91C>T
1 paper
NM_001037666.3
p.L33R
c.98T>G
1 paper
NM_001037666.3
p.K61R
c.182A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."