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.R425S

c.1275A>C

Surrounding Variants

1 paper

NM_006846.4

p.R425S

c.1275A>T

14 papers

NM_006846.4

p.K420E

c.1258A>G

1 paper

NM_006846.4

p.K417R

c.1250A>G

1 paper

NM_006846.4

p.K417insFs

c.1249_1250insG

9 papers

NM_006846.4

p.E434_E435Splc

c.1302+4A>T

1 paper

NM_006846.4

p.E434_E435Splc

c.1302+5G>C

3 papers

NM_006846.4

p.E434_E435Splc

c.1302+19G>A

1 paper

NM_006846.4

p.Q408Q

c.1224A>G

1 paper

NM_006846.4

p.Q408*

c.1222C>T

3 papers

NM_006846.4

p.F407Splc

c.1221-50G>A

1 paper

NM_006846.4

p.E434_E435Splc

c.1303-2A>G

1 paper

NM_006846.4

p.L436S

c.1307T>C