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

1 paper

NM_005068.3

p.T141A

c.421A>G

Surrounding Variants

2 papers

NM_005068.3

p.H143fs

c.427_428fs

1 paper

NM_005068.3

p.Q144H

c.432A>T

2 papers

NM_005068.3

p.M136K

c.407T>A

3 papers

NM_005068.3

p.H143_P145delFs

c.428_434del7

4 papers

NM_005068.3

p.D134N

c.400G>A

1 paper

NM_005068.3

p.V151G

c.452T>G

1 paper

NM_005068.3

p.P130P

c.390G>A

1 paper

NM_005068.3

p.V151V

c.453G>T

1 paper

NM_005068.3

p.P130L

c.389C>T

1 paper

NM_005068.3

p.P130S

c.388C>T

6 papers

NM_005068.3

p.Q152E

c.454C>G

10 papers

NM_005068.3

p.I128T

c.383T>C