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

5 papers

NM_005068.3

p.R550H

c.1649G>A

Surrounding Variants

1 paper

NM_005068.3

p.R550C

c.1648C>T

1 paper

NM_005068.3

p.R548Q

c.1643G>A

1 paper

NM_005068.3

p.S541S

c.1623G>A

4 papers

NM_005068.3

p.S541L

c.1622C>T

1 paper

NM_005068.3

p.H559Q

c.1677T>G

1 paper

NM_005068.3

p.H559Q

c.1677T>A

1 paper

NM_005068.3

p.G540V

c.1619G>T

1 paper

NM_005068.3

p.P539R

c.1616C>G

1 paper

NM_005068.3

p.S532G

c.1594A>G

1 paper

NM_005068.3

p.A570G

c.1709C>G

1 paper

NM_005068.3

p.E530K

c.1588G>A

1 paper

NM_005068.3

p.D529E

c.1587T>A