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.A198T

c.592G>A

Surrounding Variants

1 paper

NM_006846.4

p.M196I

c.588G>A

1 paper

NM_006846.4

p.M196I

c.588G>C

1 paper

NM_006846.4

p.M196I

c.588G>T

1 paper

NM_006846.4

p.A195fs

c.583_584fs

2 papers

NM_006846.4

p.C194delFs

c.581_582delGT

1 paper

NM_006846.4

p.K188Q

c.562A>C

1 paper

NM_006846.4

p.G184D

c.551G>A

2 papers

NM_006846.4

p.E178K

c.532G>A

2 papers

NM_006846.4

p.R177R

c.531G>A

1 paper

NM_006846.4

p.G171R

c.511G>A

1 paper

NM_006846.4

p.S162C

c.484A>T

1 paper

NM_006846.4

p.Q158_D159Splc

c.475-2A>G