Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.L144P

MCL1

397 papers

RefSeq Summary

This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell sur...

Pfam Domains

Bcl-2aa 60–159UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

MCL1 apoptosis regulator, BCL2 family member

HGNC Alias Symbols

BCL2L3; Mcl-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_021960.5
p.L144P
c.431T>C
Surrounding Variants
1 paper
NM_021960.5
p.L144L
c.432G>T
1 paper
NM_021960.5
p.L144L
c.430C>T
1 paper
NM_021960.5
p.L144M
c.430C>A
1 paper
NM_021960.5
p.L143L
c.429G>T
1 paper
NM_021960.5
p.P142_L143delFs
c.424_427del4
1 paper
NM_021960.5
p.E145G
c.434A>G
1 paper
NM_021960.5
p.L146F
c.438G>T
1 paper
NM_021960.5
p.P142S
c.424C>T
1 paper
NM_021960.5
p.V147F
c.439G>T
1 paper
NM_021960.5
p.V147I
c.439G>A
1 paper
NM_021960.5
p.V147fs
c.439_440fs
1 paper
NM_021960.5
p.L141M
c.421C>A
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