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

28 papers

NM_006846.4

p.D386N

c.1156G>A

Surrounding Variants

1 paper

NM_006846.4

p.I388V

c.1162A>G

1 paper

NM_006846.4

p.P391_D392ins4

c.1171_1175ins12

1 paper

NM_006846.4

p.D392_G393ins4

c.1174_1178ins12

1 paper

NM_006846.4

p.K394_V395del2

c.1180_1184del6

1 paper

NM_006846.4

p.K378Q

c.1132A>C

1 paper

NM_006846.4

p.V395M

c.1183G>A

1 paper

NM_006846.4

p.G377fs

c.1129_1130fs

1 paper

NM_006846.4

p.G377delFs

c.1130delG

1 paper

NM_006846.4

p.G377_K378del2

c.1129_1133del6

5 papers

NM_006846.4

p.H396H

c.1188T>C

1 paper

NM_006846.4

p.R371R

c.1113A>G

13 papers

NM_006846.4

p.R371*

c.1111C>T