Varaico: Literature-Extracted Genetic Variants

CKAP5

122 papers

RefSeq Summary

This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains ...

Pfam Domains

XMAP215_CLASP_TOGaa 6–218UCSCXMAP215/Dis1/CLASP, TOG domain

HEATaa 440–470UCSCHEAT repeat

XMAP215_CLASP_TOGaa 603–809UCSCXMAP215/Dis1/CLASP, TOG domain

CLASP_Naa 855–1069UCSCCLASP N terminal

XMAP215_CLASP_TOGaa 1242–1420UCSCXMAP215/Dis1/CLASP, TOG domain

Gene Aliases

HGNC Name

cytoskeleton associated protein 5

HGNC Alias Symbols

ch-TOG; KIAA0097; TOG; TOGp

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001008938.4

p.E492D

c.1476A>T

Surrounding Variants

1 paper

NM_001008938.4

p.C493F

c.1478G>T

1 paper

NM_001008938.4

p.K511N

c.1533G>T

1 paper

NM_001008938.4

p.K511N

c.1533G>C

1 paper

NM_001008938.4

p.S451insFs

c.1351_1352ins10

1 paper

NM_001008938.4

p.D450insFs

c.1348_1349ins4

1 paper

NM_001008938.4

p.I448insFs

c.1343_1344ins13

1 paper

NM_001008938.4

p.H447insFs

c.1340_1341ins19

1 paper

NM_001008938.4

p.K446_H447insFs

c.1338_1339ins11

1 paper

NM_001008938.4

p.L444I

c.1330C>A

1 paper

NM_001008938.4

p.T431S

c.1292C>G

1 paper

NM_001008938.4

p.T431S

c.1291A>T

1 paper

NM_001008938.4

p.C427S

c.1280G>C