Varaico: Literature-Extracted Genetic Variants

Gene:RGPD8
Variant:p.A1228A

RGPD8

48 papers

Pfam Domains

Ran_BP1aa 1048–1169UCSCRanBP1 domain
Ran_BP1aa 1345–1466UCSCRanBP1 domain
Rab_bindaa 1640–1705UCSCRab binding domain
GRIPaa 1706–1749UCSCGRIP domain

Gene Aliases

HGNC Name

RANBP2 like and GRIP domain containing 8

HGNC Previous Symbol

RANBP2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001164463.1
p.A1228A
c.3684C>T
Surrounding Variants
1 paper
NM_001164463.1
p.G1222C
c.3664G>T
1 paper
NM_001164463.1
p.Q1212P
c.3635A>C
1 paper
NM_001164463.1
p.F1284L
c.3850T>C
1 paper
NM_001164463.1
p.F1284L
c.3852T>G
1 paper
NM_001164463.1
p.F1284L
c.3852T>A
1 paper
NM_001164463.1
p.L1170L
c.3510G>A
1 paper
NM_001164463.1
p.R1168W
c.3502C>T
2 papers
NM_001164463.1
p.G1124E
c.3371G>A
1 paper
NM_001164463.1
p.P1121P
c.3363C>T
2 papers
NM_001164463.1
p.R1100Q
c.3299G>A
4 papers
NM_001164463.1
p.L1095P
c.3284T>C
1 paper
NM_001164463.1
p.D1388Y
c.4162G>T
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