Varaico: Literature-Extracted Genetic Variants

IGF2

364 papers

RefSeq Summary

This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epig...

Pfam Domains

Insulinaa 30–61UCSCInsulin/IGF/Relaxin family

Insulinaa 54–84UCSCInsulin/IGF/Relaxin family

IGF2_Caa 112–166UCSCInsulin-like growth factor II E-peptide

Gene Aliases

HGNC Name

insulin like growth factor 2

HGNC Previous Symbol

C11orf43

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000612.6

p.L133V

c.397C>G

Surrounding Variants

1 paper

NM_000612.6

p.L133L

c.399C>T

1 paper

NM_000612.6

p.A132T

c.394G>A

1 paper

NM_000612.6

p.L134P

c.401T>C

4 papers

NM_000612.6

p.L134Q

c.401T>A

1 paper

NM_000612.6

p.G129G

c.387C>T

1 paper

NM_000612.6

p.G129S

c.385G>A

1 paper

NM_000612.6

p.R137fs

c.409_410fs

1 paper

NM_000612.6

p.R128K

c.383G>A

1 paper

NM_000612.6

p.R138W

c.412C>T

1 paper

NM_000612.6

p.R127_R128ins1

c.381_382insATC

2 papers

NM_000612.6

p.R127H

c.380G>A

1 paper

NM_000612.6

p.R127C

c.379C>T