Varaico: Literature-Extracted Genetic Variants

Gene:RRAGB
Variant:p.P312L

RRAGB

91 papers

RefSeq Summary

Ras-homologous GTPases constitute a large family of signal transducers that alternate between an activated, GTP-binding state and an inactivated, GDP-binding state. These proteins represent cellular s...

Pfam Domains

Gtr1_RagAaa 42–296UCSCGtr1/RagA G protein conserved region

Gene Aliases

HGNC Name

Ras related GTP binding B

HGNC Previous Name

Ras-related GTP binding B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006064.5
p.P312L
c.935C>T
Surrounding Variants
1 paper
NM_006064.5
p.D297H
c.889G>C
1 paper
NM_006064.5
p.S284N
c.851G>A
2 papers
NM_006064.5
p.E334G
c.1001A>G
1 paper
NM_006064.5
p.I264_S265insFs
c.792_793insG
1 paper
NM_006064.5
p.R256H
c.767G>A
1 paper
NM_006064.5
p.I231I
c.693C>T
1 paper
NM_006064.5
p.R186C
c.556C>T
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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."