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.T433M

c.1298C>T

Surrounding Variants

1 paper

NM_005069.6

p.P448S

c.1342C>T

1 paper

NM_005069.6

p.D450N

c.1348G>A

1 paper

NM_005069.6

p.F454S

c.1361T>C

2 papers

NM_005069.6

p.M460T

c.1379T>C

1 paper

NM_005069.6

p.G405R

c.1213G>A

1 paper

NM_005069.6

p.G405R

c.1213G>C

1 paper

NM_005069.6

p.Q469fs

c.1405_1406fs

1 paper

NM_005069.6

p.Q469P

c.1406A>C

1 paper

NM_005069.6

p.P472S

c.1414C>T

1 paper

NM_005069.6

p.F394S

c.1181T>C

1 paper

NM_005069.6

p.C473Y

c.1418G>A

1 paper

NM_005069.6

p.Q389_Q390Splc

c.1168-10T>G