Varaico: Literature-Extracted Genetic Variants

Gene:CSTA
Variant:p.M65L

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
7 papers
NM_005213.4
p.M65L
c.193A>T
Surrounding Variants
7 papers
NM_005213.4
p.M65L
c.193A>C
1 paper
NM_005213.4
p.Y64H
c.190T>C
1 paper
NM_005213.4
p.A59T
c.175G>A
4 papers
NM_005213.4
p.R58*
c.172C>T
1 paper
NM_005213.4
p.R58_F70del13
c.172_209del39
1 paper
NM_005213.4
p.V57I
c.169G>A
2 papers
NM_005213.4
p.P74S
c.220C>T
1 paper
NM_005213.4
p.G75R
c.223G>A
1 paper
NM_005213.4
p.G75R
c.223G>C
7 papers
NM_005213.4
p.Q86*
c.256C>T
2 papers
NM_005213.4
p.E94K
c.280G>A
1 paper
NM_005213.4
p.T96M
c.287C>T
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