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

2 papers

NM_001136191.3

p.E456delFs

c.1366delC

Surrounding Variants

1 paper

NM_001136191.3

p.H454Q

c.1362C>G

1 paper

NM_001136191.3

p.H454Q

c.1362C>A

1 paper

NM_001136191.3

p.E467K

c.1399G>A

1 paper

NM_001136191.3

p.E468G

c.1403A>G

1 paper

NM_001136191.3

p.G471fs

c.1411_1412fs

1 paper

NM_001136191.3

p.T472P

c.1414A>C

1 paper

NM_001136191.3

p.G471delFs

c.1413delG

1 paper

NM_001136191.3

p.E433*

c.1297G>T

1 paper

NM_001136191.3

p.P430insFs

c.1289dupC

1 paper

NM_001136191.3

p.P430fs

c.1288_1289fs

1 paper

NM_001136191.3

p.S425L

c.1274C>T

1 paper

NM_015493.7

p.I490insFs

c.1468_1469insCT