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.K241*

c.721A>T

Surrounding Variants

1 paper

NM_005069.6

p.K241E

c.721A>G

1 paper

NM_005069.6

p.L240P

c.719T>C

1 paper

NM_005069.6

p.D239Y

c.715G>T

1 paper

NM_005069.6

p.D246N

c.736G>A

1 paper

NM_005069.6

p.D246E

c.738T>A

1 paper

NM_005069.6

p.D246E

c.738T>G

1 paper

NM_005069.6

p.M231I

c.693G>A

1 paper

NM_005069.6

p.M231I

c.693G>C

1 paper

NM_005069.6

p.M231I

c.693G>T

1 paper

NM_005069.6

p.T223I

c.668C>T

1 paper

NM_005069.6

p.A221T

c.661G>A

1 paper

NM_005069.6

p.A212V

c.635C>T