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.A86D

c.257C>A

Surrounding Variants

1 paper

NM_001366299.1

p.I84V

c.250A>G

2 papers

NM_001366299.1

p.A92S

c.274G>T

1 paper

NM_001366299.1

p.A93A

c.279C>G

1 paper

NM_001366299.1

p.A93A

c.279C>A

1 paper

NM_001366299.1

p.V96V

c.288G>A

1 paper

NM_001366299.1

p.G106R

c.316G>A

1 paper

NM_001366299.1

p.K109R

c.326A>G

1 paper

NM_001366299.1

p.D116H

c.346G>C

1 paper

NM_001366299.1

p.Q83_I84Splc

c.250-126G>T

2 papers

NM_001366299.1

p.D116N

c.346G>A

3 papers

NM_001366299.1

p.D116A

c.347A>C

1 paper

NM_001366299.1

p.Q117R

c.350A>G