Varaico: Literature-Extracted Genetic Variants

Gene:TMEM59L

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
1–12 of 28 variants
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.L17del1
c.49_50delTTG
1 paper
NM_012109.3
p.D30_F32del3
c.88_95del9
1 paper
NM_012109.3
p.T39A
c.115A>G
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
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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."