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.L438fs

c.1312_1313fs

Surrounding Variants

2 papers

NM_014708.6

p.L438insFs

c.1312dupC

1 paper

NM_014708.6

p.V443delFs

c.1329delG

1 paper

NM_014708.6

p.K430_L435del6

c.1288_1304del18

1 paper

NM_014708.6

p.E447_Q448del2

c.1339_1343del6

1 paper

NM_014708.6

p.T449N

c.1346C>A

1 paper

NM_014708.6

p.E450K

c.1348G>A

1 paper

NM_014708.6

p.V426L

c.1276G>C

1 paper

NM_014708.6

p.Q452fs

c.1354_1355fs

1 paper

NM_014708.6

p.Q466_D467Splc

c.1398+2T>C

1 paper

NM_014708.6

p.W480*

c.1439G>A

1 paper

NM_014708.6

p.W480*

c.1440G>A

1 paper

NM_014708.6

p.T485P

c.1453A>C