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

Selected Variant

1 paper

NM_002196.3

p.E251_P253delFs

c.752_759del8

Surrounding Variants

1 paper

NM_002196.3

p.A252delFs

c.755_756delCG

1 paper

NM_002196.3

p.P249_E251delFs

c.747_751del5

1 paper

NM_002196.3

p.P249_E251del0

c.747_752del6

1 paper

NM_002196.3

p.P249_E251delFs

c.747_753del7

1 paper

NM_002196.3

p.P249_V250delFs

c.746_749del4

1 paper

NM_002196.3

p.P249_V250delFs

c.746_750del5

1 paper

NM_002196.3

p.P249_E251del0

c.746_751del6

1 paper

NM_002196.3

p.P249_E251delFs

c.746_752del7

1 paper

NM_002196.3

p.P249_V250delFs

c.745_748del4

1 paper

NM_002196.3

p.P249_V250del0

c.745_750del6

1 paper

NM_002196.3

p.P249delFs

c.746delC

1 paper

NM_002196.3

p.E247delFs

c.741delG