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.M1V

c.1A>G

Surrounding Variants

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

1 paper

NM_001136191.3

p.K48N

c.144G>T

1 paper

NM_001136191.3

p.R60Q

c.179G>A

1 paper

NM_001136191.3

p.R69C

c.205C>T

1 paper

NM_001136191.3

p.S71I

c.212G>T

1 paper

NM_001136191.3

p.S72_L73insFs

c.216_217insA

1 paper

NM_001136191.3

p.Y102H

c.304T>C

1 paper

NM_001136191.3

p.C103Y

c.308G>A

1 paper

NM_001136191.3

p.Y111C

c.332A>G