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

1–12 of 95 variants

5 papers

NM_001136191.3

p.S181G

c.541A>G

3 papers

NM_001136191.3

p.A670V

c.2009C>T

3 papers

NM_001136191.3

p.S676F

c.2027C>T

3 papers

NM_001136191.3

p.D805A

c.2414A>C

2 papers

NM_001136191.3

p.P177L

c.530C>T

2 papers

NM_001136191.3

p.E456delFs

c.1366delC

2 papers

NM_001136191.3

p.V794M

c.2380G>A

1 paper

NM_001136191.3

p.M1V

c.1A>G

1 paper

NM_001136191.3

p.H6H

c.18C>T

1 paper

NM_001136191.3

p.D27H

c.79G>C

1 paper

NM_001136191.3

p.S33Y

c.98C>A

1 paper

NM_001136191.3

p.G39D

c.116G>A