Varaico: Literature-Extracted Genetic Variants

Gene:SART3
Variant:p.L611S

SART3

352 papers

RefSeq Summary

The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cy...

Pfam Domains

Sufaa 96–427UCSCSuppressor of forked protein (Suf)
HAT_PRP39_Naa 99–271UCSCPRP39 N-terminal HAT repeat
HAT_PRP39_Caa 302–377UCSCPRP39 C-terminal HAT repeat
RRM_1aa 724–793UCSCRNA recognition motif
RRM_1aa 821–890UCSCRNA recognition motif
LSM_int_assocaa 895–956UCSCLSM-interacting associated unstructured

Gene Aliases

HGNC Name

spliceosome associated factor 3, U4/U6 recycling protein

HGNC Alias Symbols

KIAA0156; RP11-13G14; TIP110; p110

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014706.4
p.L611S
c.1832T>C
Surrounding Variants
1 paper
NM_014706.4
p.L611V
c.1831T>G
1 paper
NM_014706.4
p.K614R
c.1841A>G
1 paper
NM_014706.4
p.K614N
c.1842G>T
1 paper
NM_014706.4
p.K614N
c.1842G>C
2 papers
NM_014706.4
p.E621D
c.1863G>T
2 papers
NM_014706.4
p.E621D
c.1863G>C
1 paper
NM_014706.4
p.R601W
c.1801C>T
1 paper
NM_014706.4
p.E594E
c.1782A>G
3 papers
NM_014706.4
p.V591M
c.1771G>A
1 paper
NM_014706.4
p.D635H
c.1903G>C
1 paper
NM_014706.4
p.D636insFs
c.1906_1907insC
1 paper
NM_014706.4
p.A583_A584insCGT
c.1747_1751ins9
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