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.G199E

c.596G>A

Surrounding Variants

1 paper

NM_006559.3

p.G199_K200delFs

c.597_598delAA

1 paper

NM_006559.3

p.L198W

c.593T>G

1 paper

NM_006559.3

p.S196delFs

c.587_588delCT

1 paper

NM_006559.3

p.R204fs

c.610_611fs

1 paper

NM_006559.3

p.R204K

c.611G>A

1 paper

NM_006559.3

p.D205N

c.613G>A

1 paper

NM_006559.3

p.A193insFs

c.578_579insA

1 paper

NM_006559.3

p.E189A

c.566A>C

1 paper

NM_006559.3

p.Q188*

c.562C>T

1 paper

NM_006559.3

p.R186_L187insFs

c.558_559insC

1 paper

NM_006559.3

p.R186*

c.556A>T

1 paper

NM_006559.3

p.K185*

c.553A>T