Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.K22_V23Splc

CSTA

54 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 4–92UCSCCystatin domain

Gene Aliases

HGNC Name

cystatin A

HGNC Previous Symbols

STF1; STFA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_005213.4
p.K22_V23Splc
c.67-2A>T
Surrounding Variants
2 papers
NM_005213.4
p.P25S
c.73C>T
1 paper
NM_005213.4
p.L27P
c.80T>C
1 paper
NM_005213.4
p.E28K
c.82G>A
1 paper
NM_005213.4
p.Q42E
c.124C>G
1 paper
NM_005213.4
p.Y43N
c.127T>A
1 paper
NM_005213.4
p.Y43C
c.128A>G
1 paper
NM_005213.4
p.V47I
c.139G>A
1 paper
NM_005213.4
p.V47F
c.139G>T
1 paper
NM_005213.4
p.V48F
c.142G>T
1 paper
NM_005213.4
p.V48D
c.143T>A
1 paper
NM_005213.4
p.Y53N
c.157T>A
1 paper
NM_005213.4
p.Y53H
c.157T>C
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