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.S344N

c.1031G>A

Surrounding Variants

1 paper

NM_001136191.3

p.V333A

c.998T>C

1 paper

NM_001136191.3

p.Q355delFs

c.1065delC

1 paper

NM_001136191.3

p.P321L

c.962C>T

1 paper

NM_001136191.3

p.P370L

c.1109C>T

1 paper

NM_001136191.3

p.R380C

c.1138C>T

1 paper

NM_001136191.3

p.Q307R

c.920A>G

1 paper

NM_001136191.3

p.P390insFs

c.1168_1169insC

1 paper

NM_001136191.3

p.L296L

c.888C>T

1 paper

NM_001136191.3

p.A395A

c.1185T>G

1 paper

NM_001136191.3

p.K404insFs

c.1210_1211insCC

1 paper

NM_001136191.3

p.S406I

c.1217G>T

1 paper

NM_001136191.3

p.M278K

c.833T>A