Varaico: Literature-Extracted Genetic Variants

KAZALD1

34 papers

RefSeq Summary

This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-typ...

Pfam Domains

IGFBPaa 53–108UCSCInsulin-like growth factor binding protein

Kazal_2aa 122–168UCSCKazal-type serine protease inhibitor domain

I-setaa 172–270UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

Kazal type serine peptidase inhibitor domain 1

HGNC Alias Symbols

FKSG40; FKSG28

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

5 papers

NM_030929.5

p.G255A

c.764G>C

4 papers

NM_030929.5

p.C76G

c.226T>G

2 papers

NM_030929.5

p.P26A

c.76C>G

2 papers

NM_030929.5

p.G136R

c.406G>A

2 papers

NM_030929.5

p.G136R

c.406G>C

2 papers

NM_030929.5

p.G236D

c.707G>A

2 papers

NM_030929.5

p.L284L

c.850C>T

1 paper

NM_030929.5

p.R6_A10delFs

c.17_29del13

1 paper

NM_030929.5

p.L16F

c.46C>T

1 paper

NM_030929.5

p.L17_G29del13

c.49_86del39

1 paper

NM_030929.5

p.V22V

c.66G>C

1 paper

NM_030929.5

p.P27fs

c.79_80fs