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

1–12 of 154 variants

10 papers

NM_001144013.2

p.D111N

c.331G>A

8 papers

NM_001144013.2

p.S937R

c.2809A>C

8 papers

NM_001144013.2

p.S937R

c.2811T>G

8 papers

NM_001144013.2

p.S937R

c.2811T>A

7 papers

NM_001144013.2

p.E745Q

c.2233G>C

5 papers

NM_001144013.2

p.K823M

c.2468A>T

4 papers

NM_001144013.2

p.E115K

c.343G>A

3 papers

NM_001144013.2

p.R23P

c.68G>C

3 papers

NM_001144013.2

p.A805T

c.2413G>A

3 papers

NM_001144013.2

p.N1281insFs

c.3842dupA

3 papers

NM_001144013.2

p.H1284R

c.3851A>G

3 papers

NM_001144013.2

p.E1287K

c.3859G>A