Varaico: Literature-Extracted Genetic Variants

Gene:CRTC1
Variant:p.L281H

CRTC1

178 papers

Pfam Domains

TORC_Naa 6–66UCSCTransducer of regulated CREB activity, N terminus
TORC_Maa 148–293UCSCTransducer of regulated CREB activity middle domain
TORC_Caa 559–634UCSCTransducer of regulated CREB activity, C terminus

Gene Aliases

HGNC Name

CREB regulated transcription coactivator 1

HGNC Previous Symbol

MECT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015321.3
p.L281H
c.842T>A
Surrounding Variants
1 paper
NM_015321.3
p.N280K
c.840C>G
1 paper
NM_015321.3
p.S275Y
c.824C>A
1 paper
NM_015321.3
p.E266A
c.797A>C
1 paper
NM_015321.3
p.P264P
c.792C>G
1 paper
NM_015321.3
p.P261Q
c.782C>A
1 paper
NM_015321.3
p.P259Q
c.776C>A
1 paper
NM_015321.3
p.L246Q
c.737T>A
1 paper
NM_015321.3
p.S245A
c.733T>G
1 paper
NM_015321.3
p.S245fs
c.733_734fs
1 paper
NM_015321.3
p.G243fs
c.727_728fs
2 papers
NM_015321.3
p.G244delFs
c.732delG
1 paper
NM_015321.3
p.L235_I236insFs
c.705_706insG
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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."