Varaico: Literature-Extracted Genetic Variants

Gene:BIK
Variant:p.L48W

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.L48W
c.143T>G
Surrounding Variants
1 paper
NM_001197.5
p.L48*
c.143T>A
1 paper
NM_001197.5
p.L48S
c.143T>C
1 paper
NM_001197.5
p.L48F
c.144G>T
1 paper
NM_001197.5
p.L48V
c.142T>G
1 paper
NM_001197.5
p.L48_C50delFs
c.143_149del7
1 paper
NM_001197.5
p.S47P
c.139T>C
1 paper
NM_001197.5
p.S47A
c.139T>G
1 paper
NM_001197.5
p.S47_C50delFs
c.139_149del11
1 paper
NM_001197.5
p.M51K
c.152T>A
1 paper
NM_001197.5
p.M51T
c.152T>C
1 paper
NM_001197.5
p.M51R
c.152T>G
1 paper
NM_001197.5
p.F45V
c.133T>G
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