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

3 papers

NM_001366299.1

p.D116A

c.347A>C

Surrounding Variants

2 papers

NM_001366299.1

p.D116N

c.346G>A

1 paper

NM_001366299.1

p.Q117R

c.350A>G

1 paper

NM_001366299.1

p.K121R

c.362A>G

1 paper

NM_001366299.1

p.K122R

c.365A>G

1 paper

NM_001366299.1

p.S129Splc

c.385+17T>C

1 paper

NM_001366299.1

p.S132A

c.394T>G

1 paper

NM_001366299.1

p.G135A

c.404G>C

1 paper

NM_001366299.1

p.R142Splc

c.425+7C>T

1 paper

NM_001366299.1

p.D116H

c.346G>C

1 paper

NM_001366299.1

p.K109R

c.326A>G

1 paper

NM_001366299.1

p.G106R

c.316G>A

1 paper

NM_001366299.1

p.V96V

c.288G>A