Varaico: Literature-Extracted Genetic Variants

Gene:CST7
Variant:p.V141I

CST7

63 papers

RefSeq Summary

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquir...

Pfam Domains

Cystatinaa 37–133UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin F

HGNC Previous Name

cystatin F (leukocystatin)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003650.4
p.V141I
c.421G>A
Surrounding Variants
1 paper
NM_003650.4
p.P140A
c.418C>G
1 paper
NM_003650.4
p.R143fs
c.427_428fs
1 paper
NM_003650.4
p.H136Y
c.406C>T
2 papers
NM_003650.4
p.*146C
c.438A>C
2 papers
NM_003650.4
p.*146C
c.438A>T
1 paper
NM_003650.4
p.S123C
c.367A>T
1 paper
NM_003650.4
p.L122V
c.364C>G
1 paper
NM_003650.4
p.N115S
c.344A>G
1 paper
NM_003650.4
p.C110Y
c.329G>A
1 paper
NM_003650.4
p.Q103R
c.308A>G
1 paper
NM_003650.4
p.K100T
c.299A>C
2 papers
NM_003650.4
p.I94L
c.280A>C
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