Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G363Splc

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
1 paper
NM_001024630.4
p.G363Splc
c.1088-2A>G
Surrounding Variants
2 papers
NM_001024630.4
p.G363Splc
c.1088-1G>C
1 paper
NM_001024630.4
p.G363D
c.1088G>A
2 papers
NM_001024630.4
p.G363V
c.1088G>T
1 paper
NM_001024630.4
p.G363Splc
c.1088-8A>G
1 paper
NM_001024630.4
p.E366K
c.1096G>A
1 paper
NM_001024630.4
p.E366insFs
c.1096_1097insC
8 papers
NM_001024630.4
p.E366*
c.1096G>T
1 paper
NM_001024630.4
p.L367fs
c.1099_1100fs
3 papers
NM_001024630.4
p.S371insFs
c.1111dupT
3 papers
NM_001024630.4
p.S371_P377delFs
c.1111_1129del19
1 paper
NM_001024630.4
p.S371fs
c.1111_1112fs
1 paper
NM_001024630.4
p.S371*
c.1112C>A
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