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

3 papers

NM_006559.3

p.R3H

c.8G>A

Surrounding Variants

1 paper

NM_006559.3

p.R4ins2

c.10_11ins6

1 paper

NM_006559.3

p.Q2insFs

c.5_6insT

1 paper

NM_006559.3

p.Q2R

c.5A>G

1 paper

NM_006559.3

p.Q2K

c.4C>A

1 paper

NM_006559.3

p.M1I

c.3G>A

1 paper

NM_006559.3

p.D5G

c.14A>G

2 papers

NM_006559.3

p.M1K

c.2T>A

1 paper

NM_006559.3

p.M1V

c.1A>G

1 paper

NM_006559.3

p.M1_Q2delFs

c.1_5del5

1 paper

NM_006559.3

p.M1_D5del5

c.1_14del15

1 paper

NM_006559.3

p.P7insFs

c.19dupC

1 paper

NM_006559.3

p.D6A

c.17A>C