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

2 papers

NM_030929.5

p.G136R

c.406G>C

Surrounding Variants

2 papers

NM_030929.5

p.G136R

c.406G>A

1 paper

NM_030929.5

p.R153L

c.458G>T

1 paper

NM_030929.5

p.G114G

c.342C>T

1 paper

NM_030929.5

p.A163T

c.487G>A

1 paper

NM_030929.5

p.H101D

c.301C>G

1 paper

NM_030929.5

p.Y99C

c.296A>G

4 papers

NM_030929.5

p.C76G

c.226T>G

1 paper

NM_030929.5

p.D74N

c.220G>A

1 paper

NM_030929.5

p.D74H

c.220G>C

1 paper

NM_030929.5

p.C67_L68ins2

c.201_202ins6

1 paper

NM_030929.5

p.C67fs

c.199_200fs

1 paper

NM_030929.5

p.C67delFs

c.199delT