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.E155K

c.463G>A

Surrounding Variants

1 paper

NM_005068.3

p.Y154H

c.460T>C

1 paper

NM_005068.3

p.S159P

c.475T>C

1 paper

NM_005068.3

p.F161S

c.482T>C

2 papers

NM_005068.3

p.M164L

c.490A>T

2 papers

NM_005068.3

p.M164L

c.490A>C

1 paper

NM_005068.3

p.K165M

c.494A>T

1 paper

NM_005068.3

p.A169G

c.506C>G

8 papers

NM_005068.3

p.R171H

c.512G>A

1 paper

NM_005068.3

p.E153Splc

c.457+43C>A

1 paper

NM_005068.3

p.E153Splc

c.457+9G>A

6 papers

NM_005068.3

p.Q152E

c.454C>G

1 paper

NM_005068.3

p.V151V

c.453G>T