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.Y609C

c.1826A>G

Surrounding Variants

1 paper

NM_005068.3

p.S603F

c.1808C>T

1 paper

NM_005068.3

p.S603C

c.1808C>G

1 paper

NM_005068.3

p.S603A

c.1807T>G

2 papers

NM_005068.3

p.G616R

c.1846G>C

1 paper

NM_005068.3

p.K601delFs

c.1803delT

2 papers

NM_005068.3

p.A598G

c.1793C>G

2 papers

NM_005068.3

p.S622P

c.1864T>C

1 paper

NM_005068.3

p.S622F

c.1865C>T

1 paper

NM_005068.3

p.N626Y

c.1876A>T

2 papers

NM_005068.3

p.D590E

c.1770C>G

2 papers

NM_005068.3

p.D590E

c.1770C>A

1 paper

NM_005068.3

p.P588L

c.1763C>T