Varaico: Literature-Extracted Genetic Variants

KANK1

163 papers

RefSeq Summary

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polym...

Pfam Domains

KN_motifaa 30–68UCSCKN motif

Ank_2aa 901–992UCSCAnkyrin repeats (3 copies)

Ank_2aa 967–1060UCSCAnkyrin repeats (3 copies)

Ank_2aa 1000–1093UCSCAnkyrin repeats (3 copies)

Ankaa 1161–1194UCSCAnkyrin repeat

Ankaa 1233–1265UCSCAnkyrin repeat

Gene Aliases

HGNC Name

KN motif and ankyrin repeat domains 1

HGNC Previous Symbol

ANKRD15

Papers

RefSeq ID

Protein change

DNA change

1–12 of 204 variants

5 papers

NM_015158.5

p.R667H

c.2000G>A

3 papers

NM_015158.5

p.E432Q

c.1294G>C

3 papers

NM_015158.5

p.A966Splc

c.2896+2T>G

3 papers

NM_015158.5

p.A1233V

c.3698C>T

2 papers

NM_015158.5

p.N96S

c.287A>G

2 papers

NM_015158.5

p.T116A

c.346A>G

2 papers

NM_015158.5

p.H210Q

c.630C>G

2 papers

NM_015158.5

p.S464A

c.1390T>G

2 papers

NM_015158.5

p.E467*

c.1399G>T

2 papers

NM_015158.5

p.V527I

c.1579G>A

2 papers

NM_015158.5

p.C551Y

c.1652G>A

2 papers

NM_015158.5

p.R574T

c.1721G>C