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.T47T

c.141C>G

Surrounding Variants

11 papers

NM_005068.3

p.T46R

c.137C>G

1 paper

NM_005068.3

p.T46K

c.137C>A

1 paper

NM_005068.3

p.L45I

c.133C>A

1 paper

NM_005068.3

p.I43I

c.129C>T

1 paper

NM_005068.3

p.K51N

c.153A>T

1 paper

NM_005068.3

p.K51N

c.153A>C

1 paper

NM_005068.3

p.I42delFs

c.125delA

1 paper

NM_005068.3

p.M52_R53del2

c.154_158del6

1 paper

NM_005068.3

p.A40S

c.118G>T

1 paper

NM_005068.3

p.K39Q

c.115A>C

2 papers

NM_005068.3

p.D38V

c.113A>T

1 paper

NM_005068.3

p.P57P

c.171A>T