Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K756delFs

RPGR

940 papers

RefSeq Summary

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body an...

Pfam Domains

WD40_RLDaa 13–363UCSCRCC1-like domain

Gene Aliases

HGNC Name

retinitis pigmentosa GTPase regulator

HGNC Previous Symbols

CRD; RP3; RP15; COD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001034853.2
p.K756delFs
c.2268delT
Surrounding Variants
4 papers
NM_001034853.2
p.E757fs
c.2269_2270fs
1 paper
NM_001034853.2
p.E752_E757delFs
c.2256_2269del14
1 paper
NM_001034853.2
p.E757fs
c.2269_2270fs
9 papers
NM_001034853.2
p.E757delFs
c.2270_2271delCT
2 papers
NM_001034853.2
p.E758fs
c.2272_2273fs
1 paper
NM_001034853.2
p.G753_E754del2
c.2257_2261del6
1 paper
NM_001034853.2
p.E758delFs
c.2272delC
1 paper
NM_001034853.2
p.G759*
c.2275G>T
1 paper
NM_001034853.2
p.E758delFs
c.2274delT
1 paper
NM_001034853.2
p.K756_E758delFs
c.2268_2274del7
2 papers
NM_001034853.2
p.G759fs
c.2275_2276fs
6 papers
NM_001034853.2
p.G759V
c.2276G>T
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