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.V69F

c.205G>T

Surrounding Variants

1 paper

NM_019117.5

p.N66K

c.198C>A

1 paper

NM_019117.5

p.N66K

c.198C>G

1 paper

NM_019117.5

p.L74_P76del0

c.221_226del6

2 papers

NM_019117.5

p.R57Q

c.170G>A

2 papers

NM_019117.5

p.R57W

c.169C>T

1 paper

NM_019117.5

p.S54R

c.162C>A

1 paper

NM_019117.5

p.S54R

c.162C>G

1 paper

NM_019117.5

p.S54R

c.160A>C

1 paper

NM_019117.5

p.R86G

c.256A>G

1 paper

NM_019117.5

p.G45V

c.134G>T

1 paper

NM_019117.5

p.H94_L96del0

c.282_287del6

1 paper

NM_019117.5

p.L96fs

c.286_287fs