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.D1116N

c.3346G>A

Surrounding Variants

1 paper

NM_014708.6

p.A1115_G1125del11

c.3343_3374del33

1 paper

NM_014708.6

p.P1119L

c.3356C>T

1 paper

NM_014708.6

p.G1125R

c.3373G>A

1 paper

NM_014708.6

p.G1125R

c.3373G>C

1 paper

NM_014708.6

p.L1105delFs

c.3314_3315delTG

1 paper

NM_014708.6

p.I1132insFs

c.3395dupT

1 paper

NM_014708.6

p.D1134N

c.3400G>A

1 paper

NM_014708.6

p.L1135V

c.3403C>G

1 paper

NM_014708.6

p.K1092delFs

c.3276delG

1 paper

NM_014708.6

p.F1147S

c.3440T>C

1 paper

NM_014708.6

p.V1162G

c.3485T>G

1 paper

NM_014708.6

p.S1180fs

c.3538_3539fs