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.A52S

c.154G>T

Surrounding Variants

1 paper

NM_014708.6

p.A52T

c.154G>A

1 paper

NM_014708.6

p.I50delFs

c.150delA

1 paper

NM_014708.6

p.S54_L55insFs

c.162_163dupCT

1 paper

NM_014708.6

p.P48R

c.143C>G

1 paper

NM_014708.6

p.P48L

c.143C>T

1 paper

NM_014708.6

p.P48insFs

c.142_143ins44

1 paper

NM_014708.6

p.D57N

c.169G>A

2 papers

NM_014708.6

p.D57A

c.170A>C

1 paper

NM_014708.6

p.L46fs

c.136_137fs

1 paper

NM_014708.6

p.I61T

c.182T>C

1 paper

NM_014708.6

p.D64G

c.191A>G

1 paper

NM_014708.6

p.I68V

c.202A>G