Varaico: Literature-Extracted Genetic Variants

SIM2

69 papers

RefSeq Summary

This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING...

Pfam Domains

bHLH_HIF1Aaa 1–63UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 79–164UCSCPAS fold

PAS_3aa 242–329UCSCPAS fold

SIM_Caa 358–660UCSCSingle-minded protein C-terminus

Gene Aliases

HGNC Name

SIM bHLH transcription factor 2

HGNC Alias Symbols

MGC119447; bHLHe15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005069.6

p.C324F

c.971G>T

Surrounding Variants

1 paper

NM_005069.6

p.C324Y

c.971G>A

2 papers

NM_005069.6

p.V326M

c.976G>A

1 paper

NM_005069.6

p.V326G

c.977T>G

1 paper

NM_005069.6

p.R321W

c.961C>T

1 paper

NM_005069.6

p.R318H

c.953G>A

1 paper

NM_005069.6

p.R318L

c.953G>T

1 paper

NM_005069.6

p.N316T

c.947A>C

2 papers

NM_005069.6

p.V313A

c.938T>C

1 paper

NM_005069.6

p.W306R

c.916T>A

1 paper

NM_005069.6

p.W306R

c.916T>C

1 paper

NM_005069.6

p.W304*

c.911G>A

2 papers

NM_005069.6

p.G303S

c.907G>A