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

1–12 of 279 variants

14 papers

NM_005068.3

p.D707H

c.2119G>C

13 papers

NM_005068.3

p.P352T

c.1054C>A

12 papers

NM_005068.3

p.A371V

c.1112C>T

11 papers

NM_005068.3

p.T46R

c.137C>G

10 papers

NM_005068.3

p.I128T

c.383T>C

8 papers

NM_005068.3

p.R171H

c.512G>A

8 papers

NM_005068.3

p.H323Y

c.967C>T

8 papers

NM_005068.3

p.R665H

c.1994G>A

7 papers

NM_005068.3

p.T714A

c.2140A>G

7 papers

NM_005068.3

p.G715V

c.2144G>T

6 papers

NM_005068.3

p.S71R

c.211A>C

6 papers

NM_005068.3

p.S71R

c.213C>G