Varaico: Literature-Extracted Genetic Variants

Gene:GRAMD4
Variant:p.W272L

GRAMD4

37 papers

RefSeq Summary

GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011].

Pfam Domains

GRAMaa 445–570UCSCGRAM domain

Gene Aliases

HGNC Name

GRAM domain containing 4

HGNC Alias Symbol

KIAA0767

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015124.5
p.W272L
c.815G>T
Surrounding Variants
1 paper
NM_015124.5
p.V279M
c.835G>A
1 paper
NM_015124.5
p.L264F
c.790C>T
1 paper
NM_015124.5
p.A244V
c.731C>T
1 paper
NM_015124.5
p.Q310H
c.930G>T
1 paper
NM_015124.5
p.N325T
c.974A>C
1 paper
NM_015124.5
p.G362E
c.1085G>A
1 paper
NM_015124.5
p.T239_V240Splc
c.717+5G>A
1 paper
NM_015124.5
p.L225S
c.674T>C
1 paper
NM_015124.5
p.R207L
c.620G>T
1 paper
NM_015124.5
p.R207W
c.619C>T
1 paper
NM_015124.5
p.R199H
c.596G>A
1 paper
NM_015124.5
p.F170L
c.510C>A
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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."