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

1–12 of 139 variants

16 papers

NM_173551.5

p.R823W

c.2467A>T

7 papers

NM_173551.5

p.G658Splc

c.1973-3C>G

5 papers

NM_173551.5

p.G303Splc

c.907+2T>A

5 papers

NM_173551.5

p.A312P

c.934G>C

5 papers

NM_173551.5

p.Q441R

c.1322A>G

4 papers

NM_173551.5

p.R222W

c.664C>T

4 papers

NM_173551.5

p.K269R

c.806A>G

4 papers

NM_173551.5

p.D313N

c.937G>A

4 papers

NM_173551.5

p.V644I

c.1930G>A

3 papers

NM_173551.5

p.Y110Y

c.330C>T

3 papers

NM_173551.5

p.P564T

c.1690C>A

3 papers

NM_173551.5

p.G658Splc

c.1973-1G>A