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

1 paper

NM_020866.3

p.K201E

c.601A>G

Surrounding Variants

1 paper

NM_020866.3

p.F199F

c.597C>T

1 paper

NM_020866.3

p.L206V

c.616T>G

1 paper

NM_020866.3

p.L206M

c.616T>A

1 paper

NM_020866.3

p.Q208*

c.622C>T

1 paper

NM_020866.3

p.H193L

c.578A>T

1 paper

NM_020866.3

p.Q190H

c.570A>T

1 paper

NM_020866.3

p.Y189D

c.565T>G

1 paper

NM_020866.3

p.E187K

c.559G>A

1 paper

NM_020866.3

p.E186G

c.557A>G

1 paper

NM_020866.3

p.S185C

c.554C>G

1 paper

NM_020866.3

p.D181D

c.543C>T

3 papers

NM_020866.3

p.T175A

c.523A>G