Varaico: Literature-Extracted Genetic Variants

BCL2L11

177 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety o...

Pfam Domains

Bim_Naa 4–40UCSCBim protein N-terminus

Bclx_interactaa 133–168UCSCBcl-x interacting, BH3 domain

Gene Aliases

HGNC Name

BCL2 like 11

HGNC Alias Symbols

BimL; BimEL; BimS; BIM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138621.5

p.D111H

c.331G>C

Surrounding Variants

1 paper

NM_138621.5

p.K112T

c.335A>C

1 paper

NM_138621.5

p.P107L

c.320C>T

1 paper

NM_138621.5

p.P105P

c.315A>T

1 paper

NM_138621.5

p.S118fs

c.352_353fs

3 papers

NM_138621.5

p.R103K

c.308G>A

2 papers

NM_138621.5

p.P119S

c.355C>T

1 paper

NM_138621.5

p.D102E

c.306C>G

1 paper

NM_138621.5

p.P119L

c.356C>T

1 paper

NM_138621.5

p.P120S

c.358C>T

1 paper

NM_138621.5

p.D100G

c.299A>G

1 paper

NM_138621.5

p.F97L

c.291C>A

1 paper

NM_138621.5

p.F97L

c.291C>G