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

12 papers

NM_005068.3

p.A371V

c.1112C>T

Surrounding Variants

1 paper

NM_005068.3

p.A371T

c.1111G>A

2 papers

NM_005068.3

p.R374Q

c.1121G>A

1 paper

NM_005068.3

p.T363_M364del1

c.1088_1090delTGG

3 papers

NM_005068.3

p.T361I

c.1082C>T

5 papers

NM_005068.3

p.R383G

c.1147A>G

1 paper

NM_005068.3

p.R383K

c.1148G>A

1 paper

NM_005068.3

p.S355F

c.1064C>T

2 papers

NM_005068.3

p.P352S

c.1054C>T

13 papers

NM_005068.3

p.P352T

c.1054C>A

1 paper

NM_005068.3

p.S348L

c.1043C>T

1 paper

NM_005068.3

p.Q346*

c.1036C>T

4 papers

NM_005068.3

p.S343P

c.1027T>C