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.S1724S

c.5172G>A

Surrounding Variants

1 paper

NM_014708.6

p.E1716del1

c.5146_5147delGAG

1 paper

NM_014708.6

p.D1726Y

c.5176G>T

1 paper

NM_014708.6

p.K1737R

c.5210A>G

1 paper

NM_014708.6

p.R1745*

c.5233C>T

1 paper

NM_014708.6

p.T1748P

c.5242A>C

1 paper

NM_014708.6

p.V1751L

c.5251G>C

1 paper

NM_014708.6

p.V1751L

c.5251G>T

1 paper

NM_014708.6

p.L1757M

c.5269C>A

1 paper

NM_014708.6

p.P1780R

c.5339C>G

1 paper

NM_014708.6

p.N1783fs

c.5347_5348fs

1 paper

NM_014708.6

p.E1813G

c.5438A>G

1 paper

NM_014708.6

p.P1830L

c.5489C>T