Varaico: Literature-Extracted Genetic Variants

Gene:SREK1
Variant:p.R213W

SREK1

36 papers

RefSeq Summary

This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate s...

Pfam Domains

RRM_1aa 68–136UCSCRNA recognition motif
RRM_1aa 68–136UCSCRNA recognition motif

Gene Aliases

HGNC Name

splicing regulatory glutamic acid and lysine rich protein 1

HGNC Previous Symbol

SFRS12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077199.3
p.R213W
c.637C>T
Surrounding Variants
1 paper
NM_001077199.3
p.T194M
c.581C>T
1 paper
NM_001077199.3
p.S234F
c.701C>T
1 paper
NM_001077199.3
p.Y185S
c.554A>C
1 paper
NM_001077199.3
p.D178H
c.532G>C
1 paper
NM_001077199.3
p.P164S
c.490C>T
1 paper
NM_001077199.3
p.T137_L138Splc
c.412-9T>C
1 paper
NM_001077199.3
p.N254K
c.762T>A
1 paper
NM_001077199.3
p.N254K
c.762T>G
1 paper
NM_001077199.3
p.E284K
c.850G>A
1 paper
NM_001077199.3
p.N301T
c.902A>C
2 papers
NM_001077199.3
p.R313C
c.937C>T
1 paper
NM_001077199.3
p.T118I
c.353C>T
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