Varaico: Literature-Extracted Genetic Variants

Gene:TMEM59L
Variant:p.D30_F32del3

TMEM59L

30 papers

RefSeq Summary

This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008].

Pfam Domains

BSMAPaa 79–284UCSCBrain specific membrane anchored protein

Gene Aliases

HGNC Name

transmembrane protein 59 like

HGNC Alias Symbol

BSMAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012109.3
p.D30_F32del3
c.88_95del9
Surrounding Variants
1 paper
NM_012109.3
p.T39A
c.115A>G
1 paper
NM_012109.3
p.L17del1
c.49_50delTTG
2 papers
NM_012109.3
p.L16del1
c.46_47delCTG
1 paper
NM_012109.3
p.A2T
c.4G>A
1 paper
NM_012109.3
p.V72L
c.214G>C
1 paper
NM_012109.3
p.I74N
c.221T>A
1 paper
NM_012109.3
p.E114G
c.341A>G
1 paper
NM_012109.3
p.A115G
c.344C>G
1 paper
NM_012109.3
p.Q118R
c.353A>G
1 paper
NM_012109.3
p.K136_R137Splc
c.409-2A>G
1 paper
NM_012109.3
p.L140_E141delFs
c.420_421delGG
1 paper
NM_012109.3
p.A142T
c.424G>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."