Varaico: Literature-Extracted Genetic Variants

Gene:NIBAN1
Variant:p.H285L

NIBAN1

94 papers

RefSeq Summary

This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. Th...

Pfam Domains

PH_Niban2aa 62–200UCSCProtein Niban 2-like, PH domain
Niban2aa 337–506UCSCProtein Niban 2-like domain

Gene Aliases

HGNC Name

niban apoptosis regulator 1

HGNC Previous Symbols

C1orf24; FAM129A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_052966.4
p.H285L
c.854A>T
Surrounding Variants
1 paper
NM_052966.4
p.K295R
c.884A>G
1 paper
NM_052966.4
p.T308R
c.923C>G
1 paper
NM_052966.4
p.R310P
c.929G>C
3 papers
NM_052966.4
p.R310H
c.929G>A
1 paper
NM_052966.4
p.T271M
c.812C>T
1 paper
NM_052966.4
p.R270M
c.809G>T
1 paper
NM_052966.4
p.V245L
c.733G>T
1 paper
NM_052966.4
p.V245L
c.733G>C
1 paper
NM_052966.4
p.P334P
c.1002G>A
1 paper
NM_052966.4
p.S349Y
c.1046C>A
1 paper
NM_052966.4
p.E353K
c.1057G>A
1 paper
NM_052966.4
p.L368H
c.1103T>A
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