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.T198A

c.592A>G

Surrounding Variants

1 paper

NM_014708.6

p.E199K

c.595G>A

1 paper

NM_014708.6

p.Y201fs

c.601_602fs

1 paper

NM_014708.6

p.L204V

c.610C>G

1 paper

NM_014708.6

p.L204fs

c.610_611fs

1 paper

NM_014708.6

p.Q188R

c.563A>G

1 paper

NM_014708.6

p.S208G

c.622A>G

1 paper

NM_014708.6

p.L214delFs

c.641delT

1 paper

NM_014708.6

p.L214*

c.641T>A

1 paper

NM_014708.6

p.L214*

c.641T>G

1 paper

NM_014708.6

p.P219del1

c.655_656delCCT

1 paper

NM_014708.6

p.K186R

c.557A>G

1 paper

NM_014708.6

p.A175V

c.524C>T