Varaico: Literature-Extracted Genetic Variants

KLHL1

383 papers

RefSeq Summary

The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010].

Pfam Domains

BTBaa 162–248UCSCBTB/POZ domain

BTBaa 202–309UCSCBTB/POZ domain

BACKaa 314–416UCSCBTB And C-terminal Kelch

Kelch_1aa 459–493UCSCKelch motif

Kelch_1aa 495–540UCSCKelch motif

Kelch_1aa 542–587UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 1

HGNC Alias Symbols

KIAA1490; MRP2; FLJ30047

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

51 papers

NM_020866.3

p.D8D

c.24C>T

Surrounding Variants

1 paper

NM_020866.3

p.K7R

c.20A>G

1 paper

NM_020866.3

p.V11M

c.31G>A

1 paper

NM_020866.3

p.V11V

c.33G>T

2 papers

NM_020866.3

p.S4C

c.11C>G

1 paper

NM_020866.3

p.S2L

c.5C>T

1 paper

NM_020866.3

p.L15R

c.44T>G

1 paper

NM_020866.3

p.M1I

c.3G>T

1 paper

NM_020866.3

p.M1insFs

c.2dupT

1 paper

NM_020866.3

p.M1I

c.3G>A

1 paper

NM_020866.3

p.L17F

c.49C>T

1 paper

NM_020866.3

p.K20Q

c.58A>C

1 paper

NM_020866.3

p.F22fs

c.64_65fs