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

1–12 of 148 variants

4 papers

NM_005069.6

p.L483M

c.1447C>A

3 papers

NM_005069.6

p.A63V

c.188C>T

2 papers

NM_005069.6

p.I33S

c.98T>G

2 papers

NM_005069.6

p.R44G

c.130C>G

2 papers

NM_005069.6

p.A108T

c.322G>A

2 papers

NM_005069.6

p.Y154C

c.461A>G

2 papers

NM_005069.6

p.Y194H

c.580T>C

2 papers

NM_005069.6

p.G303S

c.907G>A

2 papers

NM_005069.6

p.V313A

c.938T>C

2 papers

NM_005069.6

p.V326M

c.976G>A

2 papers

NM_005069.6

p.M460T

c.1379T>C

2 papers

NM_005069.6

p.G568G

c.1704G>C