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

1 paper

NM_006559.3

p.F149_S150delFs

c.447_448delTT

Surrounding Variants

1 paper

NM_006559.3

p.L148S

c.443T>C

1 paper

NM_006559.3

p.L148_F149delFs

c.442_446del5

1 paper

NM_006559.3

p.H151Y

c.451C>T

1 paper

NM_006559.3

p.L146insFs

c.437dupT

4 papers

NM_006559.3

p.M154V

c.460A>G

1 paper

NM_006559.3

p.E142G

c.425A>G

1 paper

NM_006559.3

p.K155E

c.463A>G

1 paper

NM_006559.3

p.E142K

c.424G>A

1 paper

NM_006559.3

p.D141N

c.421G>A

1 paper

NM_006559.3

p.L156P

c.467T>C

1 paper

NM_006559.3

p.L156_K157delFs

c.468_469delGA

1 paper

NM_006559.3

p.K157E

c.469A>G