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.E211K

c.631G>A

Surrounding Variants

6 papers

NM_006846.4

p.R210*

c.628C>T

1 paper

NM_006846.4

p.R210_R215del6

c.628_644del18

1 paper

NM_006846.4

p.T214insFs

c.642dupT

1 paper

NM_006846.4

p.I216V

c.646A>G

17 papers

NM_006846.4

p.R217*

c.649C>T

2 papers

NM_006846.4

p.R217Q

c.650G>A

13 papers

NM_006846.4

p.R218*

c.652C>T

2 papers

NM_006846.4

p.F201Splc

c.603-1G>A

1 paper

NM_006846.4

p.K222_D223Splc

c.666+1G>A

1 paper

NM_006846.4

p.A198T

c.592G>A

1 paper

NM_006846.4

p.M196I

c.588G>A

1 paper

NM_006846.4

p.M196I

c.588G>C