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

3 papers

NM_001144013.2

p.N1281insFs

c.3842dupA

Surrounding Variants

1 paper

NM_001144013.2

p.N1281fs

c.3841_3842fs

1 paper

NM_001144013.2

p.N1281fs

c.3841_3842fs

3 papers

NM_001144013.2

p.H1284R

c.3851A>G

3 papers

NM_001144013.2

p.E1287K

c.3859G>A

1 paper

NM_001144013.2

p.K1304fs

c.3910_3911fs

1 paper

NM_001144013.2

p.S1303_K1304delFs

c.3907_3910del4

1 paper

NM_001144013.2

p.S1312G

c.3934A>G

1 paper

NM_001144013.2

p.D1250N

c.3748G>A

2 papers

NM_001144013.2

p.T1246T

c.3738A>T

1 paper

NM_001144013.2

p.A1240T

c.3718G>A

1 paper

NM_001144013.2

p.D1323V

c.3968A>T

1 paper

NM_001144013.2

p.D1331fs

c.3991_3992fs