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.D1331_G1332delFs

c.3993_3994delCA

Surrounding Variants

1 paper

NM_001144013.2

p.D1331fs

c.3991_3992fs

1 paper

NM_001144013.2

p.P1340fs

c.4018_4019fs

1 paper

NM_001144013.2

p.P1340delFs

c.4019delG

1 paper

NM_001144013.2

p.D1323V

c.3968A>T

3 papers

NM_001144013.2

p.E1351Q

c.4051G>C

1 paper

NM_001144013.2

p.E1352K

c.4054G>A

1 paper

NM_001144013.2

p.S1312G

c.3934A>G

1 paper

NM_001144013.2

p.S1303_K1304delFs

c.3907_3910del4

1 paper

NM_001144013.2

p.K1304fs

c.3910_3911fs

1 paper

NM_001144013.2

p.F1364fs

c.4090_4091fs

1 paper

NM_001144013.2

p.F1364delFs

c.4091delA

1 paper

NM_001144013.2

p.G1372R

c.4114G>C