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

6 papers

NM_001366299.1

p.V151I

c.451G>A

Surrounding Variants

1 paper

NM_001366299.1

p.G154S

c.460G>A

1 paper

NM_001366299.1

p.G154D

c.461G>A

1 paper

NM_001366299.1

p.S144A

c.430T>G

3 papers

NM_001366299.1

p.G163R

c.487G>C

3 papers

NM_001366299.1

p.G163R

c.487G>A

1 paper

NM_001366299.1

p.G163E

c.488G>A

3 papers

NM_001366299.1

p.I170N

c.509T>A

1 paper

NM_001366299.1

p.Q171*

c.511C>T

1 paper

NM_001366299.1

p.D173V

c.518A>T

2 papers

NM_001366299.1

p.S174A

c.520T>G

1 paper

NM_001366299.1

p.Q179R

c.536A>G

1 paper

NM_001366299.1

p.Q179H

c.537G>C