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

3 papers

NM_173551.5

p.G658Splc

c.1973-1G>A

Surrounding Variants

1 paper

NM_173551.5

p.G658fs

c.1972_1973fs

7 papers

NM_173551.5

p.G658Splc

c.1973-3C>G

1 paper

NM_173551.5

p.S660fs

c.1978_1979fs

1 paper

NM_173551.5

p.K674I

c.2021A>T

2 papers

NM_173551.5

p.H685fs

c.2053_2054fs

2 papers

NM_173551.5

p.H685_S688delFs

c.2054_2064del11

2 papers

NM_173551.5

p.P698L

c.2093C>T

1 paper

NM_173551.5

p.A706T

c.2116G>A

2 papers

NM_173551.5

p.K714N

c.2142G>T

2 papers

NM_173551.5

p.K714N

c.2142G>C

2 papers

NM_173551.5

p.G650S

c.1948G>A

4 papers

NM_173551.5

p.V644I

c.1930G>A