Varaico: Literature-Extracted Genetic Variants

Gene:RPTN
Variant:p.G464V

RPTN

142 papers

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

repetin

HGNC Alias Symbol

FLJ39117

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001122965.1
p.G464V
c.1391G>T
Surrounding Variants
1 paper
NM_001122965.1
p.S461P
c.1381T>C
1 paper
NM_001122965.1
p.S460N
c.1379G>A
3 papers
NM_001122965.1
p.Q459*
c.1375C>T
1 paper
NM_001122965.1
p.S476C
c.1426A>T
1 paper
NM_001122965.1
p.G452D
c.1355G>A
1 paper
NM_001122965.1
p.Y475_S476delFs
c.1425_1426delTG
1 paper
NM_001122965.1
p.P478T
c.1432C>A
1 paper
NM_001122965.1
p.S449F
c.1346C>T
2 papers
NM_001122965.1
p.K480R
c.1439A>G
2 papers
NM_001122965.1
p.N448S
c.1343A>G
1 paper
NM_001122965.1
p.K480T
c.1439A>C
1 paper
NM_001122965.1
p.S436_N448del0
c.1307_1342del36
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