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.P661L

c.1982C>T

Surrounding Variants

3 papers

NM_005068.3

p.S663L

c.1988C>T

1 paper

NM_005068.3

p.R665C

c.1993C>T

8 papers

NM_005068.3

p.R665H

c.1994G>A

1 paper

NM_005068.3

p.R657Q

c.1970G>A

1 paper

NM_005068.3

p.R657W

c.1969C>T

2 papers

NM_005068.3

p.T653T

c.1959C>T

1 paper

NM_005068.3

p.N650Y

c.1948A>T

1 paper

NM_005068.3

p.H644R

c.1931A>G

2 papers

NM_005068.3

p.S680L

c.2039C>T

1 paper

NM_005068.3

p.I682V

c.2044A>G

1 paper

NM_005068.3

p.H685P

c.2054A>C

1 paper

NM_005068.3

p.G689V

c.2066G>T