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.L404P

c.1211T>C

Surrounding Variants

1 paper

NM_014708.6

p.R402delFs

c.1205delG

1 paper

NM_014708.6

p.S401S

c.1203T>C

1 paper

NM_014708.6

p.R408*

c.1222A>T

1 paper

NM_014708.6

p.A412delFs

c.1234delG

2 papers

NM_014708.6

p.A412fs

c.1234_1235fs

1 paper

NM_014708.6

p.E424K

c.1270G>A

1 paper

NM_014708.6

p.R399Splc

c.1196+1G>T

1 paper

NM_014708.6

p.R399*

c.1195A>T

1 paper

NM_014708.6

p.P396S

c.1186C>T

1 paper

NM_014708.6

p.K377Splc

c.1131-13A>G

1 paper

NM_014708.6

p.P376A

c.1126C>G

1 paper

NM_014708.6

p.N374K

c.1122T>A