Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.N183delFs

RUNX2

575 papers

RefSeq Summary

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal...

Pfam Domains

Runtaa 102–230UCSCRunt domain
RunxIaa 430–521UCSCRunx inhibition domain

Gene Aliases

HGNC Name

RUNX family transcription factor 2

HGNC Previous Symbols

CCD; CBFA1; CCD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001024630.4
p.N183delFs
c.549delC
Surrounding Variants
1 paper
NM_001024630.4
p.N183I
c.548A>T
1 paper
NM_001024630.4
p.F182L
c.546C>A
1 paper
NM_001024630.4
p.L185_R186ins6
c.553_557ins18
1 paper
NM_001024630.4
p.R181delFs
c.542delG
1 paper
NM_001024630.4
p.A180E
c.539C>A
1 paper
NM_001024630.4
p.A180Fs
c.539delinsCAFs
4 papers
NM_001024630.4
p.R186T
c.557G>C
1 paper
NM_001024630.4
p.A180delins
c.538_539delinsCA
1 paper
NM_001024630.4
p.F187I
c.559T>A
2 papers
NM_001024630.4
p.F187S
c.560T>C
1 paper
NM_001024630.4
p.V179fs
c.535_536fs
1 paper
NM_001024630.4
p.V188M
c.562G>A
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