Varaico: Literature-Extracted Genetic Variants

Gene:SRI
Variant:p.A128T

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.A128T
c.382G>A
Surrounding Variants
1 paper
NM_003130.4
p.K127R
c.380A>G
1 paper
NM_003130.4
p.E124A
c.371A>C
1 paper
NM_003130.4
p.S117N
c.350G>A
5 papers
NM_003130.4
p.F112L
c.336T>G
5 papers
NM_003130.4
p.F112L
c.336T>A
1 paper
NM_003130.4
p.F112Y
c.335T>A
5 papers
NM_003130.4
p.F112L
c.334T>C
1 paper
NM_003130.4
p.W105G
c.313T>G
1 paper
NM_003130.4
p.W99G
c.295T>G
1 paper
NM_003130.4
p.M90I
c.270G>C
1 paper
NM_003130.4
p.M86K
c.257T>A
1 paper
NM_003130.4
p.D85N
c.253G>A
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