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

2 papers

NM_020866.3

p.L92Q

c.275T>A

Surrounding Variants

1 paper

NM_020866.3

p.S76_S84del9

c.226_251del27

1 paper

NM_020866.3

p.S86F

c.257C>T

1 paper

NM_020866.3

p.R102M

c.305G>T

1 paper

NM_020866.3

p.S81C

c.242C>G

1 paper

NM_020866.3

p.S81A

c.241T>G

1 paper

NM_020866.3

p.G106R

c.316G>A

1 paper

NM_020866.3

p.S78S

c.234A>G

1 paper

NM_020866.3

p.G106E

c.317G>A

1 paper

NM_020866.3

p.S78L

c.233C>T

1 paper

NM_020866.3

p.A107G

c.320C>G

3 papers

NM_020866.3

p.S73F

c.218C>T

2 papers

NM_020866.3

p.S73P

c.217T>C