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

2 papers

NM_014708.6

p.G21A

c.62G>C

Surrounding Variants

1 paper

NM_014708.6

p.S22fs

c.64_65fs

2 papers

NM_014708.6

p.V20G

c.59T>G

1 paper

NM_014708.6

p.G14delins

c.41_42delinsTT

1 paper

NM_014708.6

p.A29T

c.85G>A

1 paper

NM_014708.6

p.Y31N

c.91T>A

1 paper

NM_014708.6

p.Q32L

c.95A>T

1 paper

NM_014708.6

p.E6*

c.16G>T

1 paper

NM_014708.6

p.K38_E42delFs

c.112_124del13

1 paper

NM_014708.6

p.V37E

c.110T>A

1 paper

NM_014708.6

p.S40delFs

c.119_120delCT

1 paper

NM_014708.6

p.N3N

c.9T>C

1 paper

NM_014708.6

p.N3T

c.8A>C