Varaico: Literature-Extracted Genetic Variants

Gene:SRI
Variant:p.Y18F

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
2 papers
NM_003130.4
p.Y18F
c.53A>T
Surrounding Variants
2 papers
NM_003130.4
p.G19G
c.57A>T
1 paper
NM_003130.4
p.G20V
c.59G>T
1 paper
NM_003130.4
p.G20A
c.59G>C
1 paper
NM_003130.4
p.A21delins
c.63delinsCGTGCCCCAGCCC
1 paper
NM_003130.4
p.A21A
c.63T>A
1 paper
NM_003130.4
p.F27I
c.79T>A
1 paper
NM_003130.4
p.G29A
c.86G>C
1 paper
NM_003130.4
p.T31delFs
c.92delG
1 paper
NM_003130.4
p.Q32*
c.94C>T
1 paper
NM_003130.4
p.D33V
c.98A>T
1 paper
NM_003130.4
p.P34A
c.100C>G
1 paper
NM_003130.4
p.F39_A40insT
c.115_119ins3
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