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.Y300*

c.900T>G

Surrounding Variants

1 paper

NM_006846.4

p.Y300*

c.900T>A

20 papers

NM_006846.4

p.C297C

c.891C>T

1 paper

NM_006846.4

p.A304A

c.912A>G

1 paper

NM_006846.4

p.K305N

c.915G>C

1 paper

NM_006846.4

p.I308V

c.922A>G

1 paper

NM_006846.4

p.D316_P317del2

c.946_950del6

1 paper

NM_006846.4

p.I318N

c.953T>A

1 paper

NM_006846.4

p.R319H

c.956G>A

4 papers

NM_006846.4

p.R319_G320insFs

c.957_960dup4

1 paper

NM_006846.4

p.R319_G320delFs

c.957_960del4

1 paper

NM_006846.4

p.G320fs

c.958_959fs

1 paper

NM_006846.4

p.P321fs

c.961_962fs