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

23 papers

NM_006846.4

p.F51delFs

c.153delT

Surrounding Variants

1 paper

NM_006846.4

p.K48K

c.144G>A

1 paper

NM_006846.4

p.D47G

c.140A>G

5 papers

NM_006846.4

p.Q52fs

c.154_155fs

2 papers

NM_006846.4

p.Q46K

c.136C>A

4 papers

NM_006846.4

p.Q46*

c.136C>T

1 paper

NM_006846.4

p.P45A

c.133C>G

1 paper

NM_006846.4

p.M58_F59insG

c.172_176ins3

1 paper

NM_006846.4

p.G40A

c.119G>C

1 paper

NM_006846.4

p.F59_I60insG

c.175_179ins3

1 paper

NM_006846.4

p.N61S

c.182A>G

1 paper

NM_006846.4

p.N61I

c.182A>T

2 papers

NM_006846.4

p.K62*

c.184A>T