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.P68S

c.202C>T

Surrounding Variants

1 paper

NM_006559.3

p.P68A

c.202C>G

3 papers

NM_006559.3

p.P68R

c.203C>G

1 paper

NM_006559.3

p.P68L

c.203C>T

1 paper

NM_006559.3

p.P68_T72delFs

c.204_214del11

1 paper

NM_006559.3

p.P68insFs

c.203_204insC

1 paper

NM_006559.3

p.L67Q

c.200T>A

1 paper

NM_006559.3

p.L66Q

c.197T>A

1 paper

NM_006559.3

p.S70L

c.209C>T

1 paper

NM_006559.3

p.P65L

c.194C>T

1 paper

NM_006559.3

p.Q62P

c.185A>C

1 paper

NM_006559.3

p.Q62delFs

c.186delG

1 paper

NM_006559.3

p.P74A

c.220C>G