Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_006846.4

p.A485E

c.1454C>A

Surrounding Variants

1 paper

NM_006846.4

p.R484K

c.1451G>A

4 papers

NM_006846.4

p.A492delFs

c.1476delA

2 papers

NM_006846.4

p.Q478*

c.1432C>T

1 paper

NM_006846.4

p.Q478fs

c.1432_1433fs

1 paper

NM_006846.4

p.K493fs

c.1477_1478fs

1 paper

NM_006846.4

p.F477Splc

c.1431-9T>G

17 papers

NM_006846.4

p.F477Splc

c.1431-12G>A

9 papers

NM_006846.4

p.C510*

c.1530C>A

1 paper

NM_006846.4

p.H514N

c.1540C>A

1 paper

NM_006846.4

p.P516insFs

c.1546_1547insC

2 papers

NM_006846.4

p.R518C

c.1552C>T

1 paper

NM_006846.4

p.R518H

c.1553G>A