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

18 papers

NM_006846.4

p.E820delFs

c.2459delA

Surrounding Variants

32 papers

NM_006846.4

p.K823insFs

c.2468dupA

3 papers

NM_006846.4

p.E820fs

c.2458_2459fs

1 paper

NM_006846.4

p.E820_K821delFs

c.2459_2462del4

1 paper

NM_006846.4

p.K822fs

c.2464_2465fs

1 paper

NM_006846.4

p.K822R

c.2465A>G

4 papers

NM_006846.4

p.K824_E825delFs

c.2471_2474del4

1 paper

NM_006846.4

p.K823fs

c.2467_2468fs

6 papers

NM_006846.4

p.K823fs

c.2467_2468fs

1 paper

NM_006846.4

p.K823delFs

c.2469delG

1 paper

NM_006846.4

p.K823_K824insFs

c.2469_2470insA

3 papers

NM_006846.4

p.K824fs

c.2470_2471fs

1 paper

NM_006846.4

p.K824E

c.2470A>G