Varaico: Literature-Extracted Genetic Variants

ANKS6

147 papers

RefSeq Summary

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in rena...

Pfam Domains

Ank_2aa 13–141UCSCAnkyrin repeats (3 copies)

Ank_2aa 140–221UCSCAnkyrin repeats (3 copies)

Ankaa 224–255UCSCAnkyrin repeat

Ank_2aa 296–390UCSCAnkyrin repeats (3 copies)

SAM_1aa 773–834UCSCSAM domain (Sterile alpha motif)

Gene Aliases

HGNC Name

ankyrin repeat and sterile alpha motif domain containing 6

HGNC Previous Symbols

SAMD6; ANKRD14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_173551.5

p.K269R

c.806A>G

Surrounding Variants

1 paper

NM_173551.5

p.V274A

c.821T>C

1 paper

NM_173551.5

p.A261V

c.782C>T

1 paper

NM_173551.5

p.P285R

c.854C>G

4 papers

NM_173551.5

p.R222W

c.664C>T

2 papers

NM_173551.5

p.A220T

c.658G>A

1 paper

NM_173551.5

p.H219D

c.655C>G

1 paper

NM_173551.5

p.N218fs

c.652_653fs

1 paper

NM_173551.5

p.N218fs

c.652_653fs

1 paper

NM_173551.5

p.N218insFs

c.652_653insC

1 paper

NM_173551.5

p.A215T

c.643G>A

1 paper

NM_173551.5

p.R208fs

c.622_623fs

1 paper

NM_173551.5

p.V207_R208insFs

c.621_622ins5