Varaico: Literature-Extracted Genetic Variants

SUGP2

53 papers

RefSeq Summary

This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [pro...

Pfam Domains

ARMC6_Naa 4–57UCSCArmadillo repeat-containing protein 6 N-terminal domain

Surpaa 785–837UCSCSurp module

G-patchaa 1011–1055UCSCG-patch domain

Gene Aliases

HGNC Name

SURP and G-patch domain containing 2

HGNC Previous Symbol

SFRS14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001017392.5

p.R659K

c.1976G>A

Surrounding Variants

1 paper

NM_001017392.5

p.D648N

c.1942G>A

8 papers

NM_001017392.5

p.R639Q

c.1916G>A

1 paper

NM_001017392.5

p.K633E

c.1897A>G

1 paper

NM_001017392.5

p.G687R

c.2059G>C

1 paper

NM_001017392.5

p.G687R

c.2059G>A

1 paper

NM_001017392.5

p.K628fs

c.1882_1883fs

1 paper

NM_001017392.5

p.K628insFs

c.1883_1884insT

1 paper

NM_001017392.5

p.W617R

c.1849T>C

1 paper

NM_001017392.5

p.W617R

c.1849T>A

1 paper

NM_001017392.5

p.Q722R

c.2165A>G

1 paper

NM_001017392.5

p.R831*

c.2491C>T

1 paper

NM_001017392.5

p.R831Q

c.2492G>A