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.L1376delFs

c.4127delT

Surrounding Variants

1 paper

NM_014708.6

p.D1356N

c.4066G>A

1 paper

NM_014708.6

p.Y1348C

c.4043A>G

1 paper

NM_014708.6

p.S1379Y

c.4136C>A

1 paper

NM_014708.6

p.R1399delFs

c.4196delG

1 paper

NM_014708.6

p.R1399H

c.4196G>A

1 paper

NM_014708.6

p.K1413I

c.4238A>T

1 paper

NM_014708.6

p.H1332Q

c.3996C>A

1 paper

NM_014708.6

p.H1332Q

c.3996C>G

1 paper

NM_014708.6

p.L1315F

c.3945G>C

1 paper

NM_014708.6

p.L1315F

c.3945G>T

1 paper

NM_014708.6

p.K1298_L1299Splc

c.3894+3A>G

1 paper

NM_014708.6

p.S1256C

c.3767C>G