Varaico: Literature-Extracted Genetic Variants

Gene:TMEM252
Variant:p.S39R

TMEM252

13 papers

Pfam Domains

TMEM252aa 29–167UCSCTransmembrane protein 252 family

Gene Aliases

HGNC Name

transmembrane protein 252

HGNC Previous Symbol

C9orf71

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153237.2
p.S39R
c.117C>G
Surrounding Variants
1 paper
NM_153237.2
p.S39R
c.117C>A
1 paper
NM_153237.2
p.S39R
c.115A>C
1 paper
NM_153237.2
p.W30*
c.90G>A
1 paper
NM_153237.2
p.W30*
c.89G>A
1 paper
NM_153237.2
p.I28F
c.82A>T
1 paper
NM_153237.2
p.G24G
c.72G>T
1 paper
NM_153237.2
p.Q79K
c.235C>A
1 paper
NM_153237.2
p.A82T
c.244G>A
1 paper
NM_153237.2
p.V88M
c.262G>A
1 paper
NM_153237.2
p.D95fs
c.283_284fs
1 paper
NM_153237.2
p.D95delFs
c.285delG
1 paper
NM_153237.2
p.E115D
c.345G>T
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