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

2 papers

NM_006846.4

p.G447R

c.1339G>A

Surrounding Variants

2 papers

NM_006846.4

p.G447R

c.1339G>C

1 paper

NM_006846.4

p.R448R

c.1344G>A

1 paper

NM_006846.4

p.L449I

c.1345C>A

1 paper

NM_006846.4

p.L449fs

c.1345_1346fs

1 paper

NM_006846.4

p.C451insFs

c.1351dupT

1 paper

NM_006846.4

p.L449delFs

c.1346_1347delTT

1 paper

NM_006846.4

p.S443fs

c.1327_1328fs

1 paper

NM_006846.4

p.C451fs

c.1351_1352fs

3 papers

NM_006846.4

p.R441H

c.1322G>A

2 papers

NM_006846.4

p.Y440*

c.1320C>A

2 papers

NM_006846.4

p.Y440*

c.1320C>G

1 paper

NM_006846.4

p.E454D

c.1362G>C