Varaico: Literature-Extracted Genetic Variants

Gene:PVALB
Variant:p.E60V

PVALB

79 papers

RefSeq Summary

The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involve...

Pfam Domains

EF-hand_7aa 41–108UCSCEF-hand domain pair

Gene Aliases

HGNC Name

parvalbumin

HGNC Alias Symbol

D22S749

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001315532.2
p.E60V
c.179A>T
Surrounding Variants
1 paper
NM_001315532.2
p.E60G
c.179A>G
1 paper
NM_001315532.2
p.E60K
c.178G>A
1 paper
NM_001315532.2
p.M50I
c.150G>T
1 paper
NM_001315532.2
p.M50I
c.150G>C
1 paper
NM_001315532.2
p.M50I
c.150G>A
1 paper
NM_001315532.2
p.F48I
c.142T>A
1 paper
NM_001315532.2
p.K39fs
c.115_116fs
1 paper
NM_001315532.2
p.K39delFs
c.115_116delTT
1 paper
NM_001315532.2
p.M33R
c.98T>G
1 paper
NM_001315532.2
p.K28Q
c.82A>C
1 paper
NM_001315532.2
p.A21G
c.62C>G
1 paper
NM_001315532.2
p.A21P
c.61G>C
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