Varaico: Literature-Extracted Genetic Variants

KHDRBS1

1,016 papers

RefSeq Summary

This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a ...

Pfam Domains

Qua1aa 102–153UCSCQua1 domain

KH-I_KHDC4-BBPaa 166–255UCSCKHDC4/BBP-like, KH-domain type I

Sam68-YYaa 366–415UCSCTyrosine-rich domain of Sam68

Gene Aliases

HGNC Name

KH RNA binding domain containing, signal transduction associated 1

HGNC Alias Symbols

Sam68; p62; FLJ34027

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006559.3

p.E110A

c.329A>C

Surrounding Variants

2 papers

NM_006559.3

p.K111N

c.333G>C

1 paper

NM_006559.3

p.A109P

c.325G>C

1 paper

NM_006559.3

p.D112N

c.334G>A

1 paper

NM_006559.3

p.M108delFs

c.324delG

1 paper

NM_006559.3

p.M108delFs

c.322delA

1 paper

NM_006559.3

p.S113A

c.337T>G

2 papers

NM_006559.3

p.S113*

c.338C>A

3 papers

NM_006559.3

p.S113L

c.338C>T

1 paper

NM_006559.3

p.L107F

c.319C>T

1 paper

NM_006559.3

p.L114_D115del1

c.341_343delTCG

1 paper

NM_006559.3

p.E106G

c.317A>G

1 paper

NM_006559.3

p.L114L

c.342C>G