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

Selected Variant

5 papers

NM_030929.5

p.G255A

c.764G>C

Surrounding Variants

1 paper

NM_030929.5

p.R244C

c.730C>T

1 paper

NM_030929.5

p.L268S

c.803T>C

2 papers

NM_030929.5

p.G236D

c.707G>A

1 paper

NM_030929.5

p.A201_S202ins6

c.601_605ins18

1 paper

NM_030929.5

p.N277S

c.830A>G

2 papers

NM_030929.5

p.L284L

c.850C>T

1 paper

NM_030929.5

p.G171Splc

c.512-1G>C

1 paper

NM_030929.5

p.A163T

c.487G>A

1 paper

NM_030929.5

p.R153L

c.458G>T

2 papers

NM_030929.5

p.G136R

c.406G>A

2 papers

NM_030929.5

p.G136R

c.406G>C

1 paper

NM_030929.5

p.G114G

c.342C>T