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

3 papers

NM_014708.6

p.P1038L

c.3113C>T

Surrounding Variants

1 paper

NM_014708.6

p.A1040delFs

c.3119_3120delCT

1 paper

NM_014708.6

p.S1045_P1046delFs

c.3134_3138del5

1 paper

NM_014708.6

p.A1028V

c.3083C>T

1 paper

NM_014708.6

p.E1049fs

c.3145_3146fs

1 paper

NM_014708.6

p.Q1027R

c.3080A>G

1 paper

NM_014708.6

p.A1028delFs

c.3082delG

1 paper

NM_014708.6

p.K1063R

c.3188A>G

1 paper

NM_014708.6

p.S1009C

c.3025A>T

1 paper

NM_014708.6

p.E998*

c.2992G>T

1 paper

NM_014708.6

p.E995_E998Fs

c.2985_2993delinsAGAAGGGGFs

2 papers

NM_014708.6

p.K1081K

c.3243A>G

1 paper

NM_014708.6

p.A1083_L1084delFs

c.3248_3252del5