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.R4delFs

c.10_11delCT

Surrounding Variants

2 papers

NM_001017392.5

p.T10_F11del1

c.29_31delAAG

1 paper

NM_001017392.5

p.H23L

c.68A>T

2 papers

NM_001017392.5

p.E29_V31del3

c.85_92del9

1 paper

NM_001017392.5

p.D41Splc

c.122-7A>T

1 paper

NM_001017392.5

p.P47S

c.139C>T

1 paper

NM_001017392.5

p.E52D

c.156G>T

1 paper

NM_001017392.5

p.E52D

c.156G>C

1 paper

NM_001017392.5

p.D60N

c.178G>A

1 paper

NM_001017392.5

p.A75V

c.224C>T

1 paper

NM_001017392.5

p.Y102C

c.305A>G

1 paper

NM_001017392.5

p.R109R

c.327G>A

1 paper

NM_001017392.5

p.G129A

c.386G>C