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.G61R

c.181G>C

Surrounding Variants

3 papers

NM_005068.3

p.E62K

c.184G>A

1 paper

NM_005068.3

p.A63A

c.189G>A

2 papers

NM_005068.3

p.W64R

c.190T>C

2 papers

NM_005068.3

p.W64R

c.190T>A

1 paper

NM_005068.3

p.G65D

c.194G>A

1 paper

NM_005068.3

p.R69P

c.206G>C

1 paper

NM_005068.3

p.T70I

c.209C>T

6 papers

NM_005068.3

p.S71R

c.211A>C

6 papers

NM_005068.3

p.S71R

c.213C>G

6 papers

NM_005068.3

p.S71R

c.213C>A

4 papers

NM_005068.3

p.P72S

c.214C>T

1 paper

NM_005068.3

p.D74Y

c.220G>T