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

21 papers

NM_006846.4

p.R790*

c.2368C>T

Surrounding Variants

1 paper

NM_006846.4

p.R790Q

c.2369G>A

2 papers

NM_006846.4

p.L786L

c.2358C>T

1 paper

NM_006846.4

p.L786F

c.2356C>T

1 paper

NM_006846.4

p.H803Y

c.2407C>T

1 paper

NM_006846.4

p.G804delFs

c.2411delG

1 paper

NM_006846.4

p.G804fs

c.2410_2411fs

2 papers

NM_006846.4

p.G804G

c.2412C>T

12 papers

NM_006846.4

p.T808I

c.2423C>T

1 paper

NM_006846.4

p.M809insFs

c.2425_2426insT

1 paper

NM_006846.4

p.M809fs

c.2425_2426fs

1 paper

NM_006846.4

p.L814L

c.2440C>T

1 paper

NM_006846.4

p.L814Splc

c.2441+5G>A