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

8 papers

NM_001144013.2

p.S937R

c.2809A>C

Surrounding Variants

8 papers

NM_001144013.2

p.S937R

c.2811T>G

8 papers

NM_001144013.2

p.S937R

c.2811T>A

1 paper

NM_001144013.2

p.G931R

c.2791G>C

1 paper

NM_001144013.2

p.G931R

c.2791G>A

1 paper

NM_001144013.2

p.G946S

c.2836G>A

1 paper

NM_001144013.2

p.P917L

c.2750C>T

1 paper

NM_001144013.2

p.K989E

c.2965A>G

1 paper

NM_001144013.2

p.E1031Q

c.3091G>C

1 paper

NM_001144013.2

p.V1042I

c.3124G>A

1 paper

NM_001144013.2

p.E1049*

c.3145G>T

1 paper

NM_001144013.2

p.E1049D

c.3147A>T

1 paper

NM_001144013.2

p.E1049D

c.3147A>C