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

9 papers

NM_006559.3

p.G351A

c.1052G>C

Surrounding Variants

2 papers

NM_006559.3

p.A350V

c.1049C>T

1 paper

NM_006559.3

p.A350Fs

c.1048_1050delinsCFs

1 paper

NM_006559.3

p.Q353*

c.1057C>T

1 paper

NM_006559.3

p.R348Q

c.1043G>A

1 paper

NM_006559.3

p.R348W

c.1042C>T

1 paper

NM_006559.3

p.I355T

c.1064T>C

1 paper

NM_006559.3

p.A347delFs

c.1040_1041delCA

1 paper

NM_006559.3

p.A344A

c.1032A>G

1 paper

NM_006559.3

p.P343P

c.1029A>G

1 paper

NM_006559.3

p.A344delFs

c.1030delG

1 paper

NM_006559.3

p.P343L

c.1028C>T

1 paper

NM_006559.3

p.R340S

c.1020G>T