Varaico: Literature-Extracted Genetic Variants

Gene:STIM2
Variant:p.S346insFs

STIM2

88 papers

RefSeq Summary

This gene is a member of the stromal interaction molecule (STIM) family and likely arose, along with related family member STIM1, from a common ancestral gene. The encoded protein functions to regulat...

Pfam Domains

EF-hand_STIM1aa 50–129UCSCStromal interaction molecule 1-like, EF-hand
SAM_2aa 133–202UCSCSAM domain (Sterile alpha motif)
SOARaa 345–453UCSCSTIM1 Orai1-activating region

Gene Aliases

HGNC Name

stromal interaction molecule 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020860.4
p.S346insFs
c.1037dupC
Surrounding Variants
1 paper
NM_020860.4
p.V347fs
c.1039_1040fs
1 paper
NM_020860.4
p.S344R
c.1032T>A
1 paper
NM_020860.4
p.S344R
c.1032T>G
1 paper
NM_020860.4
p.S344R
c.1030A>C
1 paper
NM_020860.4
p.W354*
c.1061G>A
1 paper
NM_020860.4
p.W354*
c.1062G>A
1 paper
NM_020860.4
p.V394A
c.1181T>C
1 paper
NM_020860.4
p.D410G
c.1229A>G
1 paper
NM_020860.4
p.R430Q
c.1289G>A
1 paper
NM_020860.4
p.E438_K439del1
c.1313_1315delAGA
1 paper
NM_020860.4
p.T455S
c.1363A>T
1 paper
NM_020860.4
p.M467K
c.1400T>A
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