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.S159I

c.476G>T

Surrounding Variants

1 paper

NM_014708.6

p.G160G

c.480A>T

1 paper

NM_014708.6

p.F161del1

c.481_482delTTT

1 paper

NM_014708.6

p.L156insFs

c.467_468insT

2 papers

NM_014708.6

p.L156F

c.466C>T

1 paper

NM_014708.6

p.L155F

c.463C>T

1 paper

NM_014708.6

p.I164delFs

c.490delA

1 paper

NM_014708.6

p.I164fs

c.490_491fs

1 paper

NM_014708.6

p.T165Fs

c.495delinsTTTFs

1 paper

NM_014708.6

p.Q168delFs

c.503_504delAG

1 paper

NM_014708.6

p.T150S

c.449C>G

1 paper

NM_014708.6

p.L169I

c.505C>A

1 paper

NM_014708.6

p.L169V

c.505C>G