Varaico: Literature-Extracted Genetic Variants

Gene:PVALB
Variant:p.T4S

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.T4S
c.10A>T
Surrounding Variants
1 paper
NM_001315532.2
p.T4ins2
c.10_11ins6
1 paper
NM_001315532.2
p.M1insFs
c.2dupT
1 paper
NM_001315532.2
p.L7M
c.19C>A
1 paper
NM_001315532.2
p.N8S
c.23A>G
1 paper
NM_001315532.2
p.E10_D11ins6
c.28_32ins18
1 paper
NM_001315532.2
p.V16M
c.46G>A
1 paper
NM_001315532.2
p.G17G
c.51A>G
1 paper
NM_001315532.2
p.A21T
c.61G>A
1 paper
NM_001315532.2
p.A21P
c.61G>C
1 paper
NM_001315532.2
p.A21G
c.62C>G
1 paper
NM_001315532.2
p.K28Q
c.82A>C
1 paper
NM_001315532.2
p.M33R
c.98T>G
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