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.L554P

c.1661T>C

Surrounding Variants

1 paper

NM_173551.5

p.F561V

c.1681T>G

1 paper

NM_173551.5

p.L562Q

c.1685T>A

3 papers

NM_173551.5

p.P564T

c.1690C>A

1 paper

NM_173551.5

p.G543A

c.1628G>C

2 papers

NM_173551.5

p.M539_L540Splc

c.1618-2A>G

1 paper

NM_173551.5

p.R574Q

c.1721G>A

1 paper

NM_173551.5

p.V610I

c.1828G>A

1 paper

NM_173551.5

p.R620R

c.1860A>G

1 paper

NM_173551.5

p.S621_P622ins5

c.1861_1865ins15

1 paper

NM_173551.5

p.A623V

c.1868C>T

1 paper

NM_173551.5

p.A626D

c.1877C>A

2 papers

NM_173551.5

p.S628F

c.1883C>T