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.P241P

c.723C>T

Surrounding Variants

1 paper

NM_001366299.1

p.A242V

c.725C>T

1 paper

NM_001366299.1

p.P241T

c.721C>A

1 paper

NM_001366299.1

p.A245T

c.733G>A

1 paper

NM_001366299.1

p.A245A

c.735C>T

1 paper

NM_001366299.1

p.G246C

c.736G>T

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.Q236P

c.707A>C

1 paper

NM_001366299.1

p.L247Q

c.740T>A

1 paper

NM_001366299.1

p.K251R

c.752A>G

1 paper

NM_001366299.1

p.N228S

c.683A>G

1 paper

NM_001366299.1

p.Q258H

c.774G>T