Varaico: Literature-Extracted Genetic Variants

KHSRP

435 papers

RefSeq Summary

The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1...

Pfam Domains

KH_1aa 146–210UCSCKH domain

KH_1aa 235–301UCSCKH domain

KH_1aa 324–388UCSCKH domain

KH_1aa 426–493UCSCKH domain

FUBP_Caa 609–635UCSCFar upstream element-binding protein, C-terminal

FUBP_Caa 665–687UCSCFar upstream element-binding protein, C-terminal

Gene Aliases

HGNC Name

KH-type splicing regulatory protein

HGNC Alias Symbols

KSRP; FUBP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001366299.1

p.K205Q

c.613A>C

Surrounding Variants

1 paper

NM_001366299.1

p.K205R

c.614A>G

2 papers

NM_001366299.1

p.M207T

c.620T>C

1 paper

NM_001366299.1

p.L208L

c.624G>A

1 paper

NM_001366299.1

p.V212L

c.634G>C

1 paper

NM_001366299.1

p.V212M

c.634G>A

1 paper

NM_001366299.1

p.P220fs

c.658_659fs

1 paper

NM_001366299.1

p.P220delFs

c.659delG

1 paper

NM_001366299.1

p.N228S

c.683A>G

1 paper

NM_001366299.1

p.Q236P

c.707A>C

1 paper

NM_001366299.1

p.Q236H

c.708G>T

1 paper

NM_001366299.1

p.Q236H

c.708G>C

1 paper

NM_001366299.1

p.P241T

c.721C>A