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

1 paper

NM_173551.5

p.A81G

c.242C>G

Surrounding Variants

1 paper

NM_173551.5

p.A85V

c.254C>T

1 paper

NM_173551.5

p.A87T

c.259G>A

1 paper

NM_173551.5

p.C73*

c.219C>A

1 paper

NM_173551.5

p.D72V

c.215A>T

1 paper

NM_173551.5

p.F96C

c.287T>G

1 paper

NM_173551.5

p.V65F

c.193G>T

1 paper

NM_173551.5

p.A59insFs

c.176_177insG

1 paper

NM_173551.5

p.A59fs

c.175_176fs

1 paper

NM_173551.5

p.A55A

c.165C>T

1 paper

NM_173551.5

p.E44_E53delFs

c.130_157del28

1 paper

NM_173551.5

p.A52V

c.155C>T

3 papers

NM_173551.5

p.Y110Y

c.330C>T