Varaico: Literature-Extracted Genetic Variants

Gene:SPINK5

SPINK5

346 papers

RefSeq Summary

This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, w...

Pfam Domains

Kazal_2aa 106–151UCSCKazal-type serine protease inhibitor domain
Kazal_1aa 161–212UCSCKazal-type serine protease inhibitor domain
Kazal_1aa 225–274UCSCKazal-type serine protease inhibitor domain
Kazal_1aa 297–349UCSCKazal-type serine protease inhibitor domain
Kazal_1aa 437–487UCSCKazal-type serine protease inhibitor domain
Kazal_1aa 496–548UCSCKazal-type serine protease inhibitor domain

Gene Aliases

HGNC Name

serine peptidase inhibitor Kazal type 5

HGNC Alias Symbols

VAKTI; LEKTI; LETKI; NETS; NS; FLJ21544; FLJ97536; FLJ97596; FLJ99794; DKFZp686K19184

Papers
RefSeq ID
Protein change
DNA change
1–12 of 414 variants
32 papers
NM_006846.4
p.K823insFs
c.2468dupA
28 papers
NM_006846.4
p.D386N
c.1156G>A
23 papers
NM_006846.4
p.F51delFs
c.153delT
21 papers
NM_006846.4
p.R790*
c.2368C>T
20 papers
NM_006846.4
p.C297C
c.891C>T
19 papers
NM_006846.4
p.A80insFs
c.238dupG
18 papers
NM_006846.4
p.E820delFs
c.2459delA
17 papers
NM_006846.4
p.R217*
c.649C>T
17 papers
NM_006846.4
p.F477Splc
c.1431-12G>A
17 papers
NM_006846.4
p.E825D
c.2475G>T
14 papers
NM_006846.4
p.K420E
c.1258A>G
13 papers
NM_006846.4
p.R218*
c.652C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."