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.E95K

c.283G>A

Surrounding Variants

1 paper

NM_014708.6

p.G96_K97delFs

c.287_291del5

1 paper

NM_014708.6

p.C93R

c.277T>C

1 paper

NM_014708.6

p.G91G

c.273C>G

1 paper

NM_014708.6

p.L99F

c.295C>T

1 paper

NM_014708.6

p.V90L

c.268G>C

1 paper

NM_014708.6

p.V89I

c.265G>A

1 paper

NM_014708.6

p.G102D

c.305G>A

1 paper

NM_014708.6

p.G102A

c.305G>C

1 paper

NM_014708.6

p.G106S

c.316G>A

1 paper

NM_014708.6

p.I111M

c.333T>G

1 paper

NM_014708.6

p.H112Y

c.334C>T

1 paper

NM_014708.6

p.D84Splc

c.251-19T>A