Varaico: Literature-Extracted Genetic Variants

KANK2

109 papers

RefSeq Summary

This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein fun...

Pfam Domains

KN_motifaa 31–69UCSCKN motif

Ank_2aa 708–803UCSCAnkyrin repeats (3 copies)

Ank_2aa 743–835UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

KN motif and ankyrin repeat domains 2

HGNC Previous Symbols

MXRA3; ANKRD25

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001136191.3

p.S181G

c.541A>G

Surrounding Variants

1 paper

NM_001136191.3

p.S181N

c.542G>A

2 papers

NM_001136191.3

p.P177L

c.530C>T

1 paper

NM_001136191.3

p.H184Q

c.552C>G

1 paper

NM_001136191.3

p.H184Q

c.552C>A

1 paper

NM_001136191.3

p.E190insFs

c.569_570ins4

1 paper

NM_001136191.3

p.A193V

c.578C>T

1 paper

NM_001136191.3

p.R197W

c.589C>T

1 paper

NM_001136191.3

p.R200W

c.598C>T

1 paper

NM_001136191.3

p.V160fs

c.478_479fs

1 paper

NM_001136191.3

p.V160delFs

c.478delC

1 paper

NM_001136191.3

p.S158F

c.473C>T

1 paper

NM_001136191.3

p.P150P

c.450C>T