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.V106G

c.317T>G

Surrounding Variants

1 paper

NM_016932.5

p.V106M

c.316G>A

1 paper

NM_016932.5

p.G107V

c.320G>T

1 paper

NM_016932.5

p.V111E

c.332T>A

1 paper

NM_016932.5

p.R112C

c.334C>T

1 paper

NM_016932.5

p.P116S

c.346C>T

1 paper

NM_016932.5

p.A95fs

c.283_284fs

1 paper

NM_016932.5

p.A95T

c.283G>A

1 paper

NM_016932.5

p.E94V

c.281A>T

1 paper

NM_016932.5

p.Y92*

c.276C>G

1 paper

NM_016932.5

p.Y92*

c.276C>A

1 paper

NM_016932.5

p.W122R

c.364T>C

1 paper

NM_016932.5

p.W122R

c.364T>A