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.F648L

c.1942T>C

Surrounding Variants

1 paper

NM_001136191.3

p.F648L

c.1944C>G

1 paper

NM_001136191.3

p.F648L

c.1944C>A

1 paper

NM_001136191.3

p.M651L

c.1951A>T

1 paper

NM_001136191.3

p.M651L

c.1951A>C

3 papers

NM_001136191.3

p.A670V

c.2009C>T

4 papers

NM_015493.7

p.S684F

c.2051C>T

NM_001136191.3

p.S676F

c.2027C>T

1 paper

NM_001136191.3

p.L616_K617Splc

c.1848+4C>T

1 paper

NM_001136191.3

p.T612T

c.1836A>G

1 paper

NM_001136191.3

p.V694V

c.2082G>A

1 paper

NM_001136191.3

p.D695N

c.2083G>A

1 paper

NM_001136191.3

p.I719M

c.2157C>G

1 paper

NM_001136191.3

p.R727W

c.2179C>T