Varaico: Literature-Extracted Genetic Variants

Gene:SETD7
Variant:p.P301L

SETD7

80 papers

Pfam Domains

MORNaa 18–35UCSCMORN repeat
MORNaa 36–58UCSCMORN repeat
MORNaa 60–81UCSCMORN repeat
MORNaa 106–125UCSCMORN repeat
SET7_Naa 110–183UCSCHistone H3 K4-specific methyltransferase SET7 N-terminal
SETaa 227–336UCSCSET domain

Gene Aliases

HGNC Name

SET domain containing 7, histone lysine methyltransferase

HGNC Alias Symbols

KIAA1717; SET7; SET7/9; Set9; KMT7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030648.4
p.P301L
c.902C>T
Surrounding Variants
1 paper
NM_030648.4
p.P301S
c.901C>T
1 paper
NM_030648.4
p.T300S
c.899C>G
1 paper
NM_030648.4
p.T300S
c.898A>T
1 paper
NM_030648.4
p.T300A
c.898A>G
4 papers
NM_030648.4
p.Y305F
c.914A>T
1 paper
NM_030648.4
p.H297R
c.890A>G
1 paper
NM_030648.4
p.H293D
c.877C>G
1 paper
NM_030648.4
p.D270A
c.809A>C
1 paper
NM_030648.4
p.G264A
c.791G>C
1 paper
NM_030648.4
p.A261P
c.781G>C
1 paper
NM_030648.4
p.E254A
c.761A>C
1 paper
NM_030648.4
p.R249*
c.745C>T
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