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

2 papers

NM_001144013.2

p.E9*

c.25G>T

Surrounding Variants

1 paper

NM_001144013.2

p.E9D

c.27G>T

1 paper

NM_001144013.2

p.E9D

c.27G>C

2 papers

NM_001144013.2

p.V12L

c.34G>C

1 paper

NM_001144013.2

p.S14T

c.40T>A

1 paper

NM_001144013.2

p.S14*

c.41C>A

2 papers

NM_001144013.2

p.S2S

c.6T>C

1 paper

NM_001144013.2

p.P20fs

c.58_59fs

3 papers

NM_001144013.2

p.R23P

c.68G>C

1 paper

NM_001144013.2

p.L35L

c.105G>T