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

1–12 of 89 variants

11 papers

NM_016932.5

p.N285H

c.853A>C

7 papers

NM_016932.5

p.Q177R

c.530A>G

7 papers

NM_016932.5

p.P241L

c.722C>T

3 papers

NM_016932.5

p.P236L

c.707C>T

2 papers

NM_016932.5

p.H42Q

c.126C>G

2 papers

NM_016932.5

p.L43F

c.127C>T

2 papers

NM_016932.5

p.H73P

c.218A>C

2 papers

NM_016932.5

p.V106G

c.317T>G

2 papers

NM_016932.5

p.K134*

c.400A>T

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.M1_S2insFs

c.3_4insA