Varaico: Literature-Extracted Genetic Variants

SIM1

178 papers

RefSeq Summary

SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an imp...

Pfam Domains

bHLH_HIF1Aaa 1–60UCSCHypoxia-inducible factor 1-alpha bHLH domain

PASaa 79–164UCSCPAS fold

PAS_3aa 242–329UCSCPAS fold

SIM_Caa 359–669UCSCSingle-minded protein C-terminus

Gene Aliases

HGNC Name

SIM bHLH transcription factor 1

HGNC Alias Symbol

bHLHe14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_005068.3

p.H323Y

c.967C>T

Surrounding Variants

1 paper

NM_005068.3

p.S320S

c.960C>T

2 papers

NM_005068.3

p.I325_V326insFs

c.975_976ins7

2 papers

NM_005068.3

p.V326F

c.976G>T

1 paper

NM_005068.3

p.V326I

c.976G>A

3 papers

NM_005068.3

p.V326fs

c.976_977fs

1 paper

NM_005068.3

p.N316T

c.947A>C

1 paper

NM_005068.3

p.V314M

c.940G>A

1 paper

NM_005068.3

p.A311V

c.932C>T

4 papers

NM_005068.3

p.S309G

c.925A>G

3 papers

NM_005068.3

p.W306C

c.918G>T

3 papers

NM_005068.3

p.W306C

c.918G>C

1 paper

NM_005068.3

p.W306R

c.916T>C