Varaico: Literature-Extracted Genetic Variants

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

5 papers

NM_020860.4

p.L138F

c.412C>T

Surrounding Variants

1 paper

NM_020860.4

p.H134Q

c.402T>A

1 paper

NM_020860.4

p.H134Q

c.402T>G

1 paper

NM_020860.4

p.H134Y

c.400C>T

1 paper

NM_020860.4

p.L194delFs

c.582delT

5 papers

NM_020860.4

p.L194P

c.581T>C

1 paper

NM_020860.4

p.Q260R

c.779A>G

1 paper

NM_020860.4

p.R268Splc

c.804-49T>A

1 paper

NM_020860.4

p.A272T

c.814G>A

2 papers

NM_020860.4

p.V281I

c.841G>A