Varaico: Literature-Extracted Genetic Variants

Gene:TMEM59L
Variant:p.L140_E141delFs

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.L140_E141delFs
c.420_421delGG
Surrounding Variants
1 paper
NM_012109.3
p.A142T
c.424G>A
1 paper
NM_012109.3
p.K136_R137Splc
c.409-2A>G
1 paper
NM_012109.3
p.S148S
c.444C>T
1 paper
NM_012109.3
p.V161I
c.481G>A
1 paper
NM_012109.3
p.S163L
c.488C>T
1 paper
NM_012109.3
p.T173I
c.518C>T
1 paper
NM_012109.3
p.V183A
c.548T>C
1 paper
NM_012109.3
p.V185M
c.553G>A
1 paper
NM_012109.3
p.S194G
c.580A>G
1 paper
NM_012109.3
p.L195L
c.585C>T
1 paper
NM_012109.3
p.R201H
c.602G>A
1 paper
NM_012109.3
p.Q118R
c.353A>G
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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."