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

5 papers

NM_173551.5

p.G303Splc

c.907+2T>A

Surrounding Variants

2 papers

NM_173551.5

p.I296T

c.887T>C

5 papers

NM_173551.5

p.A312P

c.934G>C

4 papers

NM_173551.5

p.D313N

c.937G>A

2 papers

NM_173551.5

p.D313A

c.938A>C

1 paper

NM_173551.5

p.N320I

c.959A>T

1 paper

NM_173551.5

p.N323S

c.968A>G

1 paper

NM_173551.5

p.G326R

c.976G>C

1 paper

NM_173551.5

p.G326R

c.976G>A

1 paper

NM_173551.5

p.G326V

c.977G>T

1 paper

NM_173551.5

p.G337fs

c.1009_1010fs

1 paper

NM_173551.5

p.G337delFs

c.1010_1011delCC

1 paper

NM_173551.5

p.A350A

c.1050G>A