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.H112Q

c.336T>A

Surrounding Variants

1 paper

NM_014708.6

p.H112Y

c.334C>T

1 paper

NM_014708.6

p.I111M

c.333T>G

2 papers

NM_014708.6

p.T114I

c.341C>T

1 paper

NM_014708.6

p.S115_N122del8

c.343_365del24

1 paper

NM_014708.6

p.L119_L120del2

c.355_359del6

1 paper

NM_014708.6

p.G106S

c.316G>A

1 paper

NM_014708.6

p.T121A

c.361A>G

1 paper

NM_014708.6

p.T121I

c.362C>T

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.N122_A123Splc

c.366+2T>C

1 paper

NM_014708.6

p.L99F

c.295C>T