Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A77delFs

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.A77delFs
c.230_231delCT
Surrounding Variants
2 papers
NM_001024630.4
p.A77_A78delFs
c.231_232delTG
2 papers
NM_001024630.4
p.A76E
c.227C>A
1 paper
NM_001024630.4
p.A82_A83ins0
c.246_248dupGGC
4 papers
NM_001024630.4
p.A78del1
c.232_234delGCG
1 paper
NM_001024630.4
p.A81_A83del0
c.243_248del6
1 paper
NM_001024630.4
p.A80_A83del0
c.240_248del9
1 paper
NM_001024630.4
p.A80_A87del0
c.240_260del21
1 paper
NM_001024630.4
p.A79_A87del0
c.237_260del24
1 paper
NM_001024630.4
p.A78fs
c.232_233fs
3 papers
NM_001024630.4
p.A77_R92delFs
c.230_276del47
1 paper
NM_001024630.4
p.A77_A79ins1
c.231_236dup6
1 paper
NM_001024630.4
p.A77_A79del0
c.231_236del6
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