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.T84A

c.250A>G

Surrounding Variants

1 paper

NM_006559.3

p.T84P

c.250A>C

1 paper

NM_006559.3

p.P83P

c.249G>A

1 paper

NM_006559.3

p.A82V

c.245C>T

1 paper

NM_006559.3

p.A82S

c.244G>T

1 paper

NM_006559.3

p.P81S

c.241C>T

4 papers

NM_006559.3

p.P88L

c.263C>T

1 paper

NM_006559.3

p.S90_A91ins4

c.268_272ins12

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.A91A

c.273C>G

1 paper

NM_006559.3

p.A76_T77delFs

c.228_229delGA

1 paper

NM_006559.3

p.D75N

c.223G>A