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.M164I

c.492G>C

Surrounding Variants

1 paper

NM_005069.6

p.M164I

c.492G>A

1 paper

NM_005069.6

p.M164I

c.492G>T

1 paper

NM_005069.6

p.L168F

c.504G>C

1 paper

NM_005069.6

p.L168F

c.504G>T

1 paper

NM_005069.6

p.A169V

c.506C>T

1 paper

NM_005069.6

p.N172I

c.515A>T

1 paper

NM_005069.6

p.G174S

c.520G>A

2 papers

NM_005069.6

p.Y154C

c.461A>G

1 paper

NM_005069.6

p.S178I

c.533G>T

1 paper

NM_005069.6

p.S178S

c.534C>T

1 paper

NM_005069.6

p.G179R

c.535G>A

1 paper

NM_005069.6

p.G179R

c.535G>C