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.Y127N

c.379T>A

Surrounding Variants

1 paper

NM_005069.6

p.Y125*

c.375T>A

1 paper

NM_005069.6

p.I128N

c.383T>A

1 paper

NM_005069.6

p.Y125H

c.373T>C

1 paper

NM_005069.6

p.I124M

c.372T>G

1 paper

NM_005069.6

p.T120M

c.359C>T

1 paper

NM_005069.6

p.D134N

c.400G>A

1 paper

NM_005069.6

p.M136V

c.406A>G

1 paper

NM_005069.6

p.V117G

c.350T>G

1 paper

NM_005069.6

p.Q116_V117Splc

c.349-1G>A

1 paper

NM_005069.6

p.L140H

c.419T>A

1 paper

NM_005069.6

p.H143P

c.428A>C

1 paper

NM_005069.6

p.P145L

c.434C>T