Varaico: Literature-Extracted Genetic Variants

RGPD3

123 papers

RefSeq Summary

This gene is located in a cluster of Ran-binding protein related genes on chromosome 2 which arose through duplication in primates. The encoded protein contains an N-terminal TPR (tetratricopeptide re...

Pfam Domains

TPR_8aa 61–93UCSCTetratricopeptide repeat

Ran_BP1aa 1049–1170UCSCRanBP1 domain

Ran_BP1aa 1346–1467UCSCRanBP1 domain

Rab_bindaa 1641–1706UCSCRab binding domain

GRIPaa 1707–1750UCSCGRIP domain

Gene Aliases

HGNC Name

RANBP2 like and GRIP domain containing 3

HGNC Alias Symbol

RGP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001144013.2

p.R597*

c.1789C>T

Surrounding Variants

1 paper

NM_001144013.2

p.G601E

c.1802G>A

1 paper

NM_001144013.2

p.G587fs

c.1759_1760fs

1 paper

NM_001144013.2

p.K676insFs

c.2028dupA

1 paper

NM_001144013.2

p.E693G

c.2078A>G

1 paper

NM_001144013.2

p.A696V

c.2087C>T

1 paper

NM_001144013.2

p.D698N

c.2092G>A

1 paper

NM_001144013.2

p.E703K

c.2107G>A

1 paper

NM_001144013.2

p.Q584*

c.1750C>T

2 papers

NM_001144013.2

p.P573S

c.1717C>T

1 paper

NM_001144013.2

p.V545Splc

c.1635-3T>G

1 paper

NM_001144013.2

p.S510F

c.1529C>T

1 paper

NM_001144013.2

p.D484N

c.1450G>A