Varaico: Literature-Extracted Genetic Variants

Gene:RNFT1
Variant:p.S243R

RNFT1

15 papers

Pfam Domains

zf-RING_2aa 373–413UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein, transmembrane 1

HGNC Alias Symbol

PTD016

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016125.4
p.S243R
c.729C>G
Surrounding Variants
1 paper
NM_016125.4
p.S243R
c.729C>A
1 paper
NM_016125.4
p.S243R
c.727A>C
1 paper
NM_016125.4
p.T254R
c.761C>G
1 paper
NM_016125.4
p.F260L
c.778T>C
1 paper
NM_016125.4
p.F260L
c.780C>G
1 paper
NM_016125.4
p.F260L
c.780C>A
2 papers
NM_016125.4
p.P301S
c.901C>T
1 paper
NM_016125.4
p.P301L
c.902C>T
1 paper
NM_016125.4
p.S311fs
c.931_932fs
1 paper
NM_016125.4
p.I310_S311delFs
c.930_933del4
1 paper
NM_016125.4
p.I190T
c.569T>C
1 paper
NM_016125.4
p.S369insFs
c.1105_1106insA
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