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

7 papers

NM_016932.5

p.P241L

c.722C>T

Surrounding Variants

3 papers

NM_016932.5

p.P236L

c.707C>T

1 paper

NM_016932.5

p.H248N

c.742C>A

1 paper

NM_016932.5

p.P249S

c.745C>T

1 paper

NM_016932.5

p.P250L

c.749C>T

1 paper

NM_016932.5

p.P229L

c.686C>T

1 paper

NM_016932.5

p.S253S

c.759C>T

1 paper

NM_016932.5

p.P229A

c.685C>G

1 paper

NM_016932.5

p.A254T

c.760G>A

1 paper

NM_016932.5

p.P258L

c.773C>T

1 paper

NM_016932.5

p.G264E

c.791G>A

1 paper

NM_016932.5

p.E215G

c.644A>G

1 paper

NM_016932.5

p.E215*

c.643G>T