Varaico: Literature-Extracted Genetic Variants

Gene:SRI

SRI

134 papers

RefSeq Summary

This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regula...

Pfam Domains

EF-hand_8aa 45–102UCSCEF-hand domain pair
EF-hand_7aa 103–163UCSCEF-hand domain pair

Gene Aliases

HGNC Name

sorcin

Papers
RefSeq ID
Protein change
DNA change
1–12 of 77 variants
5 papers
NM_003130.4
p.F112L
c.334T>C
5 papers
NM_003130.4
p.F112L
c.336T>G
5 papers
NM_003130.4
p.F112L
c.336T>A
2 papers
NM_003130.4
p.G17A
c.50G>C
2 papers
NM_003130.4
p.Y18F
c.53A>T
2 papers
NM_003130.4
p.G19G
c.57A>T
1 paper
NM_003130.4
p.A2T
c.4G>A
1 paper
NM_003130.4
p.Y3insFs
c.7_8insG
1 paper
NM_003130.4
p.Y3insFs
c.7_8insA
1 paper
NM_003130.4
p.G5A
c.14G>C
1 paper
NM_003130.4
p.G5G
c.15G>A
1 paper
NM_003130.4
p.H6Q
c.18T>A
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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."