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.T164N

c.491C>A

Surrounding Variants

1 paper

NM_016932.5

p.A158S

c.472G>T

1 paper

NM_016932.5

p.A158T

c.472G>A

1 paper

NM_016932.5

p.W171C

c.513G>T

1 paper

NM_016932.5

p.W171C

c.513G>C

2 papers

NM_016932.5

p.K173N

c.519G>T

2 papers

NM_016932.5

p.K173N

c.519G>C

1 paper

NM_016932.5

p.N174Y

c.520A>T

7 papers

NM_016932.5

p.Q177R

c.530A>G

1 paper

NM_016932.5

p.A181T

c.541G>A

1 paper

NM_016932.5

p.Y143insFs

c.429dupC

1 paper

NM_016932.5

p.E141D

c.423G>T

1 paper

NM_016932.5

p.E141D

c.423G>C