Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.D195V

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
1 paper
NM_021960.5
p.D195V
c.584A>T
Surrounding Variants
1 paper
NM_021960.5
p.D195A
c.584A>C
1 paper
NM_021960.5
p.D195N
c.583G>A
1 paper
NM_021960.5
p.D195E
c.585C>G
1 paper
NM_021960.5
p.D195E
c.585C>A
1 paper
NM_021960.5
p.T196A
c.586A>G
1 paper
NM_021960.5
p.D195_T196delins
c.585_586delinsGC
1 paper
NM_021960.5
p.K194M
c.581A>T
1 paper
NM_021960.5
p.K194R
c.581A>G
1 paper
NM_021960.5
p.K197E
c.589A>G
1 paper
NM_021960.5
p.K197N
c.591G>T
1 paper
NM_021960.5
p.A193S
c.577G>T
1 paper
NM_021960.5
p.K197N
c.591G>C
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