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.L1499L

c.4497T>G

Surrounding Variants

1 paper

NM_014708.6

p.L1505_T1506ins4

c.4513_4517ins12

1 paper

NM_014708.6

p.R1490Q

c.4469G>A

1 paper

NM_014708.6

p.L1511F

c.4533G>C

1 paper

NM_014708.6

p.L1511F

c.4533G>T

3 papers

NM_014708.6

p.V1512G

c.4535T>G

1 paper

NM_014708.6

p.S1514I

c.4541G>T

1 paper

NM_014708.6

p.M1442T

c.4325T>C

1 paper

NM_014708.6

p.K1434*

c.4300A>T

1 paper

NM_014708.6

p.V1569V

c.4707G>T

1 paper

NM_014708.6

p.V1580I

c.4738G>A

1 paper

NM_014708.6

p.K1628T

c.4883A>C

1 paper

NM_014708.6

p.E1644insFs

c.4931dupA