Varaico: Literature-Extracted Genetic Variants

Gene:SRI
Variant:p.P7P

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
Selected Variant
1 paper
NM_003130.4
p.P7P
c.21T>A
Surrounding Variants
1 paper
NM_003130.4
p.P7_G8insFs
c.21_22insTT
1 paper
NM_003130.4
p.P7R
c.20C>G
1 paper
NM_003130.4
p.P7_G8insG
c.19_23ins3
1 paper
NM_003130.4
p.H6Q
c.18T>A
1 paper
NM_003130.4
p.A9G
c.26C>G
1 paper
NM_003130.4
p.G5G
c.15G>A
1 paper
NM_003130.4
p.G5A
c.14G>C
1 paper
NM_003130.4
p.G10S
c.28G>A
1 paper
NM_003130.4
p.G10V
c.29G>T
1 paper
NM_003130.4
p.G10D
c.29G>A
1 paper
NM_003130.4
p.G11D
c.32G>A
1 paper
NM_003130.4
p.G12R
c.34G>A
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