Varaico: Literature-Extracted Genetic Variants

Gene:RGN
Variant:p.I34_A36delFs

RGN

48 papers

RefSeq Summary

The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies...

Pfam Domains

SGLaa 16–264UCSCSMP-30/Gluconolactonase/LRE-like region

Gene Aliases

HGNC Name

regucalcin

HGNC Alias Symbol

SMP30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152869.4
p.I34_A36delFs
c.101_107del7
Surrounding Variants
1 paper
NM_152869.4
p.S26T
c.76T>A
1 paper
NM_152869.4
p.S44_F45insFs
c.132_133insTT
1 paper
NM_152869.4
p.T46A
c.136A>G
1 paper
NM_152869.4
p.S19Y
c.56C>A
1 paper
NM_152869.4
p.S19P
c.55T>C
1 paper
NM_152869.4
p.E18V
c.53A>T
1 paper
NM_152869.4
p.E18Q
c.52G>C
1 paper
NM_152869.4
p.C16S
c.47G>C
1 paper
NM_152869.4
p.C16S
c.46T>A
1 paper
NM_152869.4
p.C14Y
c.41G>A
1 paper
NM_152869.4
p.C14F
c.41G>T
1 paper
NM_152869.4
p.S2S
c.6T>C
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