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.P735A

c.2203C>G

Surrounding Variants

2 papers

NM_173551.5

p.T733P

c.2197A>C

1 paper

NM_173551.5

p.P741L

c.2222C>T

1 paper

NM_173551.5

p.S742L

c.2225C>T

1 paper

NM_173551.5

p.G745R

c.2233G>C

1 paper

NM_173551.5

p.G745R

c.2233G>A

3 papers

NM_173551.5

p.S756L

c.2267C>T

1 paper

NM_173551.5

p.K714_K715Splc

c.2143-10T>C

1 paper

NM_173551.5

p.D776fs

c.2326_2327fs

3 papers

NM_173551.5

p.Y790*

c.2370T>G

3 papers

NM_173551.5

p.Y790*

c.2370T>A

3 papers

NM_173551.5

p.Y790_Q791del1

c.2370_2372delTGA

1 paper

NM_173551.5

p.E798_V799Splc

c.2394+1G>A