Varaico: Literature-Extracted Genetic Variants

SIX2

96 papers

RefSeq Summary

This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other m...

Pfam Domains

SIX1_SDaa 9–119UCSCTranscriptional regulator, SIX1, N-terminal SD domain

Homeodomainaa 127–181UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 2

HGNC Previous Names

sine oculis homeobox (Drosophila) homolog 2; sine oculis homeobox homolog 2 (Drosophila)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016932.5

p.H42Q

c.126C>G

Surrounding Variants

1 paper

NM_016932.5

p.H42Q

c.126C>A

2 papers

NM_016932.5

p.L43F

c.127C>T

1 paper

NM_016932.5

p.H44D

c.130C>G

1 paper

NM_016932.5

p.C40R

c.118T>C

1 paper

NM_016932.5

p.A39T

c.115G>A

1 paper

NM_016932.5

p.E47*

c.139G>T

1 paper

NM_016932.5

p.E47fs

c.139_140fs

1 paper

NM_016932.5

p.S36L

c.107C>T

1 paper

NM_016932.5

p.K53M

c.158A>T

1 paper

NM_016932.5

p.F58S

c.173T>C

1 paper

NM_016932.5

p.G25V

c.74G>T

1 paper

NM_016932.5

p.G24fs

c.70_71fs