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.T519A

c.1555A>G

Surrounding Variants

1 paper

NM_020866.3

p.R514*

c.1540C>T

2 papers

NM_020866.3

p.D506N

c.1516G>A

1 paper

NM_020866.3

p.D505N

c.1513G>A

1 paper

NM_020866.3

p.I504I

c.1512T>A

1 paper

NM_020866.3

p.P537R

c.1610C>G

1 paper

NM_020866.3

p.Q498K

c.1492C>A

3 papers

NM_020866.3

p.R495G

c.1483A>G

1 paper

NM_020866.3

p.R543S

c.1629A>T

1 paper

NM_020866.3

p.R543S

c.1629A>C

1 paper

NM_020866.3

p.M491I

c.1473G>T

1 paper

NM_020866.3

p.M491I

c.1473G>C

1 paper

NM_020866.3

p.M491I

c.1473G>A