Varaico: Literature-Extracted Genetic Variants

Gene:BTG1
Variant:p.E46K

BTG1

126 papers

RefSeq Summary

This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated wh...

Pfam Domains

BTGaa 11–125UCSCBTG family

Gene Aliases

HGNC Name

BTG anti-proliferation factor 1

HGNC Alias Symbol

APRO2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001731.3
p.E46K
c.136G>A
Surrounding Variants
10 papers
NM_001731.3
p.E46D
c.138G>T
10 papers
NM_001731.3
p.E46D
c.138G>C
1 paper
NM_001731.3
p.Q45P
c.134A>C
5 papers
NM_001731.3
p.Q45*
c.133C>T
3 papers
NM_001731.3
p.L47V
c.139C>G
1 paper
NM_001731.3
p.S43_L44delFs
c.128_132del5
1 paper
NM_001731.3
p.L44_L47delFs
c.130_139del10
1 paper
NM_001731.3
p.L44L
c.132G>A
1 paper
NM_001731.3
p.Q42_L44delFs
c.124_130del7
1 paper
NM_001731.3
p.L47L
c.141G>A
1 paper
NM_001731.3
p.L44_L47delFs
c.131_140del10
1 paper
NM_001731.3
p.L44fs
c.130_131fs
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