Varaico: Literature-Extracted Genetic Variants

Gene:TRAM2
Variant:p.N241_E242del1

TRAM2

27 papers

RefSeq Summary

TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membr...

Pfam Domains

TRAM_LAG1_CLN8aa 113–312UCSCTLC domain

Gene Aliases

HGNC Name

translocation associated membrane protein 2

HGNC Alias Symbol

KIAA0057

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012288.4
p.N241_E242del1
c.722_724delCGT
Surrounding Variants
1 paper
NM_012288.4
p.N241del1
c.721_723delGTT
1 paper
NM_012288.4
p.N241_E242del2
c.721_725del6
1 paper
NM_012288.4
p.N209Splc
c.627-5C>T
1 paper
NM_012288.4
p.L260V
c.778C>G
1 paper
NM_012288.4
p.E275K
c.823G>A
1 paper
NM_012288.4
p.W308C
c.924G>T
1 paper
NM_012288.4
p.W308C
c.924G>C
1 paper
NM_012288.4
p.A205G
c.614C>G
1 paper
NM_012288.4
p.R190H
c.569G>A
1 paper
NM_012288.4
p.R190C
c.568C>T
1 paper
NM_012288.4
p.R363W
c.1087C>T
1 paper
NM_012288.4
p.D150N
c.448G>A
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