Varaico: Literature-Extracted Genetic Variants

Gene:BIK
Variant:p.A78A

BIK

183 papers

RefSeq Summary

The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction w...

Pfam Domains

bcl-2I13aa 1–159UCSCBcl2-interacting killer, BH3-domain containing

Gene Aliases

HGNC Name

BCL2 interacting killer

HGNC Alias Symbol

NBK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001197.5
p.A78A
c.234C>T
Surrounding Variants
1 paper
NM_001197.5
p.A78delFs
c.232_233delGC
1 paper
NM_001197.5
p.S81_M85del0
c.241_255del15
2 papers
NM_001197.5
p.R76H
c.227G>A
1 paper
NM_001197.5
p.R76P
c.227G>C
1 paper
NM_001197.5
p.R76L
c.227G>T
1 paper
NM_001197.5
p.R76C
c.226C>T
1 paper
NM_001197.5
p.S81S
c.243C>T
1 paper
NM_001197.5
p.P75L
c.224C>T
1 paper
NM_001197.5
p.P75_R76delFs
c.224_227del4
1 paper
NM_001197.5
p.V83M
c.247G>A
2 papers
NM_001197.5
p.V83L
c.247G>C
2 papers
NM_001197.5
p.V83L
c.247G>T
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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."