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

2 papers

NM_001017392.5

p.R1070S

c.3210G>C

Surrounding Variants

2 papers

NM_001017392.5

p.R1070S

c.3210G>T

1 paper

NM_001017392.5

p.G1056R

c.3166G>C

1 paper

NM_001017392.5

p.G1056R

c.3166G>A

1 paper

NM_001017392.5

p.A1054V

c.3161C>T

1 paper

NM_001017392.5

p.T1045_E1050delFs

c.3134_3150del17

1 paper

NM_001017392.5

p.T1045fs

c.3133_3134fs

1 paper

NM_001017392.5

p.V1043M

c.3127G>A

1 paper

NM_001017392.5

p.V1043M

c.3127G>A

1 paper

NM_001017392.5

p.G926G

c.2778C>T

1 paper

NM_001017392.5

p.D922H

c.2764G>C