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.Q704L

c.2111A>T

Surrounding Variants

1 paper

NM_005068.3

p.Q704H

c.2112G>T

1 paper

NM_005068.3

p.Q704H

c.2112G>C

3 papers

NM_005068.3

p.R703Q

c.2108G>A

14 papers

NM_005068.3

p.D707H

c.2119G>C

1 paper

NM_005068.3

p.S701C

c.2102C>G

5 papers

NM_005068.3

p.T712I

c.2135C>T

1 paper

NM_005068.3

p.T712K

c.2135C>A

7 papers

NM_005068.3

p.T714A

c.2140A>G

7 papers

NM_005068.3

p.G715V

c.2144G>T

4 papers

NM_005068.3

p.P692L

c.2075C>T

1 paper

NM_005068.3

p.G689V

c.2066G>T

1 paper

NM_005068.3

p.H685P

c.2054A>C