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.L70_K72del0

c.210_215del6

Surrounding Variants

1 paper

NM_006846.4

p.S76L

c.227C>T

19 papers

NM_006846.4

p.A80insFs

c.238dupG

1 paper

NM_006846.4

p.A80T

c.238G>A

3 papers

NM_006846.4

p.A80fs

c.238_239fs

5 papers

NM_006846.4

p.A80fs

c.238_239fs

1 paper

NM_006846.4

p.A80D

c.239C>A

1 paper

NM_006846.4

p.H82Y

c.244C>T

2 papers

NM_006846.4

p.T90insFs

c.268_269insT

1 paper

NM_006846.4

p.E94_L95Splc

c.282+1G>A

1 paper

NM_006846.4

p.E94_L95Splc

c.282+3G>T

2 papers

NM_006846.4

p.L70Splc

c.209+4A>G

1 paper

NM_006846.4

p.L70Splc

c.209+1G>A