Varaico: Literature-Extracted Genetic Variants

Gene:TMEM50A
Variant:p.W37G

TMEM50A

17 papers

RefSeq Summary

This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it ...

Pfam Domains

UPF0220aa 5–156UCSCUncharacterised protein family (UPF0220)

Gene Aliases

HGNC Name

transmembrane protein 50A

HGNC Alias Symbol

SMP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014313.4
p.W37G
c.109T>G
Surrounding Variants
1 paper
NM_014313.4
p.A58T
c.172G>A
1 paper
NM_014313.4
p.A58V
c.173C>T
1 paper
NM_014313.4
p.M69Splc
c.206+1G>A
1 paper
NM_014313.4
p.G17E
c.50G>A
1 paper
NM_014313.4
p.M1K
c.2T>A
1 paper
NM_014313.4
p.M1delFs
c.2delT
1 paper
NM_014313.4
p.M69Splc
c.207-51G>A
1 paper
NM_014313.4
p.Q77K
c.229C>A
1 paper
NM_014313.4
p.Q90R
c.269A>G
2 papers
NM_014313.4
p.V99I
c.295G>A
1 paper
NM_014313.4
p.A104D
c.311C>A
1 paper
NM_014313.4
p.I114V
c.340A>G
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