Varaico: Literature-Extracted Genetic Variants

Gene:SREK1
Variant:p.V20A

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.V20A
c.59T>C
Surrounding Variants
1 paper
NM_001077199.3
p.I21T
c.62T>C
1 paper
NM_001077199.3
p.P17insFs
c.51dupC
1 paper
NM_001077199.3
p.F13F
c.39C>T
1 paper
NM_001077199.3
p.S40fs
c.118_119fs
1 paper
NM_001077199.3
p.D54Splc
c.162-7C>T
1 paper
NM_001077199.3
p.A56T
c.166G>A
3 papers
NM_001077199.3
p.P57S
c.169C>T
1 paper
NM_001077199.3
p.K63R
c.188A>G
1 paper
NM_001077199.3
p.P95L
c.284C>T
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