Varaico: Literature-Extracted Genetic Variants

Gene:SREK1
Variant:p.R342H

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.R342H
c.1025G>A
Surrounding Variants
1 paper
NM_001077199.3
p.H355R
c.1064A>G
1 paper
NM_001077199.3
p.R365W
c.1093C>T
1 paper
NM_001077199.3
p.R405R
c.1215T>A
1 paper
NM_001077199.3
p.R437W
c.1309C>T
1 paper
NM_001077199.3
p.K457N
c.1371G>C
1 paper
NM_001077199.3
p.K457N
c.1371G>T
1 paper
NM_001077199.3
p.R471fs
c.1411_1412fs
1 paper
NM_001077199.3
p.S477fs
c.1429_1430fs
1 paper
NM_001077199.3
p.R495Splc
c.1485-3C>T
1 paper
NM_001077199.3
p.R498C
c.1492C>T
2 papers
NM_001077199.3
p.R313C
c.937C>T
1 paper
NM_001077199.3
p.N301T
c.902A>C
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