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.G848S

c.2542G>A

Surrounding Variants

1 paper

NM_014708.6

p.G850R

c.2548G>A

1 paper

NM_014708.6

p.G850E

c.2549G>A

1 paper

NM_014708.6

p.E853delFs

c.2558_2559delAG

2 papers

NM_014708.6

p.R852*

c.2554A>T

1 paper

NM_014708.6

p.E853fs

c.2557_2558fs

1 paper

NM_014708.6

p.L856insFs

c.2566_2567insTT

1 paper

NM_014708.6

p.E860delFs

c.2579delA

1 paper

NM_014708.6

p.K829N

c.2487A>T

1 paper

NM_014708.6

p.K829Splc

c.2486+2T>C

1 paper

NM_014708.6

p.K829N

c.2487A>C

1 paper

NM_014708.6

p.K829N

c.2487A>T

1 paper

NM_014708.6

p.V819L

c.2455G>C