Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BCL2L13

Variant:p.G41V

BCL2L13

47 papers

RefSeq Summary

This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript var...

Pfam Domains

Bcl-2aa 104–200UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 like 13

HGNC Alias Symbols

MIL1; BCL-RAMBO

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:17655833 G>T

NM_015367.4

p.G41V

c.122G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a8 overlapping SVs

Surrounding Variants

1 paper

chr22:17655793 C>G

NM_015367.4

p.Q28E

c.82C>G

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:17655779 T>C

NM_015367.4

p.L23S

c.68T>C

exact variant not in gnomAD8 overlapping SVs

1 paper

chr22:17655740 G>T

NM_015367.4

p.G10V

c.29G>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)8 overlapping SVs

1 paper

chr22:17655724 T>TN

NM_015367.4

p.S5fs

c.13_14fs

exact variant not in gnomAD8 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."