Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF10

SRSF10

29 papers

RefSeq Summary

This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1...

Pfam Domains

RRM_1aa 12–82UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 10

HGNC Previous Symbols

FUSIP2; FUSIP1; SFRS13A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr1:23980250 G>A

NM_054016.4

p.S2S

c.6C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a75 overlapping SVs

1 paper

chr1:23980247 G>A

NM_054016.4

p.R3R

c.9C>T

Exome: 0.0% (AC=120, hom=0)Genome: 0.1% (AC=144, hom=0)75 overlapping SVs

1 paper

chr1:23971603 C>T

NM_054016.4

p.R154Q

c.461G>A

Exome: 0.0% (AC=6, hom=0)Genome: n/a73 overlapping SVs

1 paper

chr1:23971597 C>T

NM_054016.4

p.S156N

c.467G>A

exact variant not in gnomAD73 overlapping SVs

1 paper

chr1:23971594 C>T

NM_054016.4

p.R157K

c.470G>A

exact variant not in gnomAD73 overlapping SVs

1 paper

chr1:23971378 A>C

NM_054016.4

p.S185A

c.553T>G

exact variant not in gnomAD73 overlapping SVs

1 paper

chr1:23971372 G>C

NM_054016.4

p.P187A

c.559C>G

exact variant not in gnomAD73 overlapping SVs

1 paper

chr1:23971184 A>G

NM_054016.4

p.S249S

c.747T>C

Exome: 0.3% (AC=4989, hom=16)Genome: 0.2% (AC=284, hom=0)73 overlapping SVs

1 paper

chr1:23971182 C>T

NM_054016.4

p.R250K

c.749G>A

exact variant not in gnomAD73 overlapping SVs

1 paper

chr1:23971162 G>C

NM_054016.4

p.P257A

c.769C>G

Exome: 0.0% (AC=3, hom=0)Genome: n/a73 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."