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.K102R

c.305A>G

Surrounding Variants

1 paper

NM_006559.3

p.K102E

c.304A>G

1 paper

NM_006559.3

p.K102N

c.306G>C

1 paper

NM_006559.3

p.K102N

c.306G>T

1 paper

NM_006559.3

p.Y103D

c.307T>G

2 papers

NM_006559.3

p.Y103S

c.308A>C

2 papers

NM_006559.3

p.L104delFs

c.311_312delTG

1 paper

NM_006559.3

p.E100G

c.299A>G

1 paper

NM_006559.3

p.E100_P105delFs

c.300_315del16

1 paper

NM_006559.3

p.L104R

c.311T>G

1 paper

NM_006559.3

p.P105insFs

c.315dupC

1 paper

NM_006559.3

p.P105A

c.313C>G

3 papers

NM_006559.3

p.E98E

c.294G>A