Varaico: Literature-Extracted Genetic Variants

KLHL4

70 papers

RefSeq Summary

This gene encodes a member of the kelch family of proteins, which are characterized by kelch repeat motifs and a POZ/BTB protein-binding domain. It is thought that kelch repeats are actin binding doma...

Pfam Domains

BTBaa 172–279UCSCBTB/POZ domain

BACKaa 284–385UCSCBTB And C-terminal Kelch

Beta-prop_ATRN-LZTR1aa 431–687UCSCAttractin/LZTR1 beta-propeller

Gene Aliases

HGNC Name

kelch like family member 4

HGNC Alias Symbols

KIAA1687; DKELCHL; KHL4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019117.5

p.C284S

c.850T>A

Surrounding Variants

1 paper

NM_019117.5

p.C284R

c.850T>C

1 paper

NM_019117.5

p.C284S

c.851G>C

1 paper

NM_019117.5

p.L285S

c.854T>C

2 papers

NM_019117.5

p.P281H

c.842C>A

1 paper

NM_019117.5

p.S282_I287del6

c.844_860del18

2 papers

NM_019117.5

p.I287V

c.859A>G

1 paper

NM_019117.5

p.I276V

c.826A>G

1 paper

NM_019117.5

p.V302M

c.904G>A

1 paper

NM_019117.5

p.T265T

c.795T>A

1 paper

NM_019117.5

p.T307S

c.919A>T

1 paper

NM_019117.5

p.T307I

c.920C>T

1 paper

NM_019117.5

p.M308V

c.922A>G