Varaico: Literature-Extracted Genetic Variants

INSM1

55 papers

RefSeq Summary

Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroend...

Pfam Domains

zf-C2H2aa 295–317UCSCZinc finger, C2H2 type

zf-C2H2aa 367–390UCSCZinc finger, C2H2 type

zf-C2H2aa 441–464UCSCZinc finger, C2H2 type

zf-C2H2aa 469–492UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

INSM transcriptional repressor 1

HGNC Alias Symbols

IA-1; IA1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

1 paper

NM_002196.3

p.T14M

c.41C>T

1 paper

NM_002196.3

p.P15L

c.44C>T

1 paper

NM_002196.3

p.R28S

c.82C>A

1 paper

NM_002196.3

p.L32I

c.94C>A

1 paper

NM_002196.3

p.G37R

c.109G>A

1 paper

NM_002196.3

p.G37R

c.109G>C

1 paper

NM_002196.3

p.G37V

c.110G>T

1 paper

NM_002196.3

p.A45T

c.133G>A

1 paper

NM_002196.3

p.S47delFs

c.141delC

1 paper

NM_002196.3

p.V49G

c.146T>G

1 paper

NM_002196.3

p.A65V

c.194C>T

1 paper

NM_002196.3

p.A67delFs

c.201delC