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

1–12 of 349 variants

3 papers

NM_014708.6

p.T198A

c.592A>G

3 papers

NM_014708.6

p.R863T

c.2588G>C

3 papers

NM_014708.6

p.P1038L

c.3113C>T

3 papers

NM_014708.6

p.V1512G

c.4535T>G

2 papers

NM_014708.6

p.V20G

c.59T>G

2 papers

NM_014708.6

p.G21A

c.62G>C

2 papers

NM_014708.6

p.A52S

c.154G>T

2 papers

NM_014708.6

p.D57A

c.170A>C

2 papers

NM_014708.6

p.T114I

c.341C>T

2 papers

NM_014708.6

p.L156F

c.466C>T

2 papers

NM_014708.6

p.A412fs

c.1234_1235fs

2 papers

NM_014708.6

p.L438insFs

c.1312dupC