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

11 papers

NM_006559.3

p.V229F

c.685G>T

Surrounding Variants

1 paper

NM_006559.3

p.H228D

c.682C>G

1 paper

NM_006559.3

p.H228_V229del2

c.682_686del6

1 paper

NM_006559.3

p.I231V

c.691A>G

1 paper

NM_006559.3

p.H222P

c.665A>C

1 paper

NM_006559.3

p.P237delFs

c.710delC

1 paper

NM_006559.3

p.A221V

c.662C>T

1 paper

NM_006559.3

p.A221delFs

c.662_663delCC

2 papers

NM_006559.3

p.Y220C

c.659A>G

1 paper

NM_006559.3

p.Y220delFs

c.660delT

1 paper

NM_006559.3

p.C238W

c.714T>G

1 paper

NM_006559.3

p.A240delFs

c.720delT

1 paper

NM_006559.3

p.P218delFs

c.654delC