Varaico: Literature-Extracted Genetic Variants

Gene:PMEPA1
Variant:p.D117A

PMEPA1

38 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression of this gene is induced by androgens and transforming growth factor beta, and the encoded protein sup...

Pfam Domains

PMEPA1_helicalaa 29–70UCSCPMEPA1 helical domain

Gene Aliases

HGNC Name

prostate transmembrane protein, androgen induced 1

HGNC Previous Symbol

TMEPAI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020182.5
p.D117A
c.350A>C
Surrounding Variants
1 paper
NM_020182.5
p.D117_L119del0
c.351_356del6
1 paper
NM_020182.5
p.A120fs
c.358_359fs
1 paper
NM_020182.5
p.A120_P123delFs
c.360_369del10
1 paper
NM_020182.5
p.P107L
c.320C>T
1 paper
NM_020182.5
p.P138L
c.413C>T
1 paper
NM_020182.5
p.H142R
c.425A>G
1 paper
NM_020182.5
p.D145N
c.433G>A
1 paper
NM_020182.5
p.E157K
c.469G>A
1 paper
NM_020182.5
p.P158_P159insFs
c.474_475insC
1 paper
NM_020182.5
p.S182fs
c.544_545fs
1 paper
NM_020182.5
p.A185T
c.553G>A
1 paper
NM_020182.5
p.P186A
c.556C>G
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