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.K837_G838Splc

c.2512-2A>G

Surrounding Variants

3 papers

NM_173551.5

p.K837_G838Splc

c.2512-2A>C

1 paper

NM_173551.5

p.A864fs

c.2590_2591fs

1 paper

NM_173551.5

p.A864insFs

c.2590dupG

1 paper

NM_173551.5

p.P865S

c.2593C>T

1 paper

NM_173551.5

p.A829A

c.2487G>C

16 papers

NM_173551.5

p.R823W

c.2467A>T

1 paper

NM_173551.5

p.S822P

c.2464T>C

1 paper

NM_173551.5

p.G821E

c.2462G>A

3 papers

NM_173551.5

p.T808fs

c.2422_2423fs

3 papers

NM_173551.5

p.L807insFs

c.2420dupT

1 paper

NM_173551.5

p.A803V

c.2408C>T