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.E827*

c.2479G>T

Surrounding Variants

1 paper

NM_006846.4

p.D826E

c.2478T>A

1 paper

NM_006846.4

p.D826E

c.2478T>G

12 papers

NM_006846.4

p.E825D

c.2475G>C

17 papers

NM_006846.4

p.E825D

c.2475G>T

6 papers

NM_006846.4

p.E825fs

c.2473_2474fs

2 papers

NM_006846.4

p.R829_S830insFs

c.2487_2490dup4

5 papers

NM_006846.4

p.K824_E825delFs

c.2472_2473delAG

3 papers

NM_006846.4

p.K824_E825Fs

c.2471_2475delinsTFs

3 papers

NM_006846.4

p.K824fs

c.2470_2471fs

1 paper

NM_006846.4

p.K824E

c.2470A>G

9 papers

NM_006846.4

p.K824fs

c.2470_2471fs

1 paper

NM_006846.4

p.K824_E825delFs

c.2471_2475del5