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

1 paper

NM_001136191.3

p.Y111C

c.332A>G

Surrounding Variants

1 paper

NM_001136191.3

p.R117P

c.350G>C

1 paper

NM_001136191.3

p.R117H

c.350G>A

1 paper

NM_001136191.3

p.G118S

c.352G>A

1 paper

NM_001136191.3

p.C103Y

c.308G>A

1 paper

NM_001136191.3

p.Y102H

c.304T>C

1 paper

NM_001136191.3

p.N121S

c.362A>G

1 paper

NM_001136191.3

p.P122L

c.365C>T

1 paper

NM_001136191.3

p.R123W

c.367C>T

1 paper

NM_001136191.3

p.V124V

c.372G>C

1 paper

NM_001136191.3

p.R134C

c.400C>T

1 paper

NM_001136191.3

p.P142L

c.425C>T

1 paper

NM_001136191.3

p.S72_L73insFs

c.216_217insA