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.K39Q

c.115A>C

Surrounding Variants

1 paper

NM_005069.6

p.A40V

c.119C>T

2 papers

NM_005069.6

p.R44G

c.130C>G

2 papers

NM_005069.6

p.I33S

c.98T>G

1 paper

NM_005069.6

p.L45I

c.133C>A

1 paper

NM_005069.6

p.P28S

c.82C>T

1 paper

NM_005069.6

p.F56L

c.166T>C

1 paper

NM_005069.6

p.F56L

c.168C>A

1 paper

NM_005069.6

p.F56L

c.168C>G

1 paper

NM_005069.6

p.P57S

c.169C>T

1 paper

NM_005069.6

p.E19K

c.55G>A

1 paper

NM_005069.6

p.G18G

c.54C>A

1 paper

NM_005069.6

p.K6R

c.17A>G