Varaico: Literature-Extracted Genetic Variants

Gene:SVIL
Variant:p.K923E

SVIL

208 papers

RefSeq Summary

This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive...

Pfam Domains

Gelsolinaa 1452–1522UCSCGelsolin repeat
Gelsolinaa 1452–1522UCSCGelsolin repeat
VHPaa 2179–2214UCSCVillin headpiece domain

Gene Aliases

HGNC Name

supervillin

HGNC Alias Name

archvillin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003174.3
p.K923E
c.2767A>G
Surrounding Variants
1 paper
NM_021738.3
p.A1346S
c.4036G>T
1 paper
NM_021738.3
p.L1341*
c.4022T>A
1 paper
NM_021738.3
p.R1357Q
c.4070G>A
1 paper
NM_021738.3
p.V1358I
c.4072G>A
7 papers
NM_021738.3
p.L1374R
c.4121T>G
NM_003174.3
p.L948R
c.2843T>G
1 paper
NM_021738.3
p.Q1376*
c.4126C>T
4 papers
NM_021738.3
p.M1393I
c.4179G>T
4 papers
NM_021738.3
p.M1393I
c.4179G>C
4 papers
NM_021738.3
p.M1393I
c.4179G>A
1 paper
NM_003174.3
p.K968R
c.2903A>G
1 paper
NM_021738.3
p.M1398Splc
c.4192+2T>A
1 paper
NM_021738.3
p.D1335N
c.4003G>A
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