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.K96*

c.286A>T

Surrounding Variants

1 paper

NM_006559.3

p.K96R

c.287A>G

1 paper

NM_006559.3

p.E98V

c.293A>T

2 papers

NM_006559.3

p.A93A

c.279C>G

1 paper

NM_006559.3

p.A93V

c.278C>T

3 papers

NM_006559.3

p.E98E

c.294G>A

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.A91A

c.273C>G

2 papers

NM_006559.3

p.S90L

c.269C>T

1 paper

NM_006559.3

p.A91delFs

c.271delG

1 paper

NM_006559.3

p.K102E

c.304A>G

1 paper

NM_006559.3

p.S90_A91ins4

c.268_272ins12