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

11 papers

NM_016932.5

p.N285H

c.853A>C

Surrounding Variants

1 paper

NM_016932.5

p.V287M

c.859G>A

1 paper

NM_016932.5

p.G290C

c.868G>T

1 paper

NM_016932.5

p.D276N

c.826G>A

1 paper

NM_016932.5

p.Q275K

c.823C>A

1 paper

NM_016932.5

p.G273D

c.818G>A

1 paper

NM_016932.5

p.H270insFs

c.810dupC

1 paper

NM_016932.5

p.G264E

c.791G>A

1 paper

NM_016932.5

p.P258L

c.773C>T

1 paper

NM_016932.5

p.A254T

c.760G>A

1 paper

NM_016932.5

p.S253S

c.759C>T

1 paper

NM_016932.5

p.P250L

c.749C>T

1 paper

NM_016932.5

p.P249S

c.745C>T