Varaico: Literature-Extracted Genetic Variants

Gene:SERPINB6
Variant:p.V244L

SERPINB6

291 papers

RefSeq Summary

The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor...

Pfam Domains

Serpinaa 6–376UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 6

HGNC Previous Symbols

PI6; DFNB91

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004568.6
p.V244L
c.730G>T
Surrounding Variants
1 paper
NM_004568.6
p.T243_V244Splc
c.730-1G>C
1 paper
NM_001271822.2
p.T257_V258Splc
c.772-1G>A
4 papers
NM_004568.6
p.E245*
c.733G>T
1 paper
NM_004568.6
p.T249A
c.745A>G
1 paper
NM_004568.6
p.T249_Y250del0
c.745_750del6
1 paper
NM_004568.6
p.T249_E251del0
c.746_751del6
1 paper
NM_004568.6
p.E268_V269delFs
c.804_807del4
1 paper
NM_004568.6
p.S270fs
c.808_809fs
1 paper
NM_004568.6
p.S270F
c.809C>T
1 paper
NM_004568.6
p.P272R
c.815C>G
1 paper
NM_004568.6
p.Y280C
c.839A>G
1 paper
NM_004568.6
p.D281N
c.841G>A
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