Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.G1247S

PCARE

272 papers

RefSeq Summary

The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid m...

Pfam Domains

Retinalaa 1–1264UCSCRetinal protein

Gene Aliases

HGNC Name

photoreceptor cilium actin regulator

HGNC Previous Symbol

C2orf71

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001029883.3
p.G1247S
c.3739G>A
Surrounding Variants
1 paper
NM_001029883.3
p.L1244P
c.3731T>C
4 papers
NM_001029883.3
p.R1250C
c.3748C>T
1 paper
NM_001029883.3
p.R1250L
c.3749G>T
1 paper
NM_001029883.3
p.S1241F
c.3722C>T
1 paper
NM_001029883.3
p.P1239_C1240delFs
c.3717_3718delAG
1 paper
NM_001029883.3
p.C1240fs
c.3718_3719fs
1 paper
NM_001029883.3
p.P1254L
c.3761C>T
4 papers
NM_001029883.3
p.P1235L
c.3704C>T
1 paper
NM_001029883.3
p.L1263L
c.3789G>A
6 papers
NM_001029883.3
p.S1224_S1225ins0
c.3672_3674dupCAG
2 papers
NM_001029883.3
p.E1226K
c.3676G>A
1 paper
NM_001029883.3
p.R1268W
c.3802C>T
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