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.A626D

c.1877C>A

Surrounding Variants

2 papers

NM_173551.5

p.S628F

c.1883C>T

1 paper

NM_173551.5

p.S628fs

c.1882_1883fs

1 paper

NM_173551.5

p.A623V

c.1868C>T

1 paper

NM_173551.5

p.N630D

c.1888A>G

1 paper

NM_173551.5

p.S621_P622ins5

c.1861_1865ins15

1 paper

NM_173551.5

p.R620R

c.1860A>G

1 paper

NM_173551.5

p.P635S

c.1903C>T

1 paper

NM_173551.5

p.G639G

c.1917C>T

1 paper

NM_173551.5

p.V610I

c.1828G>A

4 papers

NM_173551.5

p.V644I

c.1930G>A

2 papers

NM_173551.5

p.G650S

c.1948G>A

7 papers

NM_173551.5

p.G658Splc

c.1973-3C>G