Varaico: Literature-Extracted Genetic Variants

KNTC1

359 papers

RefSeq Summary

This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned...

Pfam Domains

KNTC1_Naa 18–393UCSCKNTC1, N-terminal

ARM_KNTC1_1staa 402–647UCSCKNTC1 first ARM-repeats domain

ARM_KNTC1_2ndaa 754–918UCSCKNTC1 second ARM-repeats domain

ARM_KNTC1_3rdaa 1324–1535UCSCKNTC1 third ARM-repeats domain

Rod_Caa 1580–2129UCSCRough deal protein C-terminal region

Gene Aliases

HGNC Name

kinetochore associated 1

HGNC Alias Symbols

KIAA0166; ROD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014708.6

p.D904H

c.2710G>C

Surrounding Variants

1 paper

NM_014708.6

p.L897delFs

c.2690delT

1 paper

NM_014708.6

p.A884S

c.2650G>T

1 paper

NM_014708.6

p.Q871insFs

c.2613dupA

1 paper

NM_014708.6

p.R866*

c.2596A>T

3 papers

NM_014708.6

p.R863T

c.2588G>C

1 paper

NM_014708.6

p.G908S

c.2722G>A

1 paper

NM_014708.6

p.P920insFs

c.2759_2760insT

1 paper

NM_014708.6

p.E922K

c.2764G>A

1 paper

NM_014708.6

p.E924Q

c.2770G>C

1 paper

NM_014708.6

p.Q939fs

c.2815_2816fs

1 paper

NM_014708.6

p.E860delFs

c.2579delA

1 paper

NM_014708.6

p.L856insFs

c.2566_2567insTT