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

1 paper

NM_016932.5

p.E125V

c.374A>T

Surrounding Variants

1 paper

NM_016932.5

p.E125K

c.373G>A

1 paper

NM_016932.5

p.P116_G124del0

c.346_372del27

1 paper

NM_016932.5

p.T127delFs

c.381delG

1 paper

NM_016932.5

p.W122R

c.364T>C

1 paper

NM_016932.5

p.W122R

c.364T>A

1 paper

NM_016932.5

p.Y129N

c.385T>A

1 paper

NM_016932.5

p.C130F

c.389G>T

1 paper

NM_016932.5

p.C130W

c.390C>G

2 papers

NM_016932.5

p.K134*

c.400A>T

1 paper

NM_016932.5

p.K134R

c.401A>G

1 paper

NM_016932.5

p.P116S

c.346C>T

1 paper

NM_016932.5

p.V138M

c.412G>A