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.Q441R

c.1322A>G

Surrounding Variants

1 paper

NM_173551.5

p.L434fs

c.1300_1301fs

2 papers

NM_173551.5

p.L434delFs

c.1301delA

1 paper

NM_173551.5

p.G426G

c.1278C>T

1 paper

NM_173551.5

p.A415_S416del2

c.1243_1247del6

1 paper

NM_173551.5

p.R412Q

c.1235G>A

1 paper

NM_173551.5

p.R412*

c.1234C>T

1 paper

NM_173551.5

p.L410V

c.1228C>G

2 papers

NM_173551.5

p.W458*

c.1373G>A

2 papers

NM_173551.5

p.W458*

c.1374G>A

2 papers

NM_173551.5

p.R461*

c.1381C>T

1 paper

NM_173551.5

p.N464S

c.1391A>G

1 paper

NM_173551.5

p.R467P

c.1400G>C