Varaico: Literature-Extracted Genetic Variants

Gene:MAS1
Variant:p.L123P

MAS1

28 papers

RefSeq Summary

This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospho...

Pfam Domains

7tm_1aa 49–280UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

MAS1 proto-oncogene, G protein-coupled receptor

HGNC Previous Name

MAS1 oncogene

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002377.4
p.L123P
c.368T>C
Surrounding Variants
1 paper
NM_002377.4
p.T124M
c.371C>T
1 paper
NM_002377.4
p.R141*
c.421C>T
1 paper
NM_002377.4
p.R144H
c.431G>A
1 paper
NM_002377.4
p.S149L
c.446C>T
1 paper
NM_002377.4
p.S149S
c.447G>A
1 paper
NM_002377.4
p.V152A
c.455T>C
1 paper
NM_002377.4
p.I89I
c.267C>T
1 paper
NM_002377.4
p.M166I
c.498G>A
1 paper
NM_002377.4
p.M166I
c.498G>C
1 paper
NM_002377.4
p.M166I
c.498G>T
1 paper
NM_002377.4
p.A76P
c.226G>C
1 paper
NM_002377.4
p.V68L
c.202G>C
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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."