Varaico: Literature-Extracted Genetic Variants

KLHL13

18 papers

RefSeq Summary

This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexe...

Pfam Domains

BTBaa 82–190UCSCBTB/POZ domain

BACKaa 196–297UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 332–542UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_KLHDC2_KLHL20_DRC7aa 473–638UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch like family member 13

HGNC Previous Symbols

BKLHD2; KIAA1309

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_001168302.2

p.R70Q

c.209G>A

1 paper

NM_001168302.2

p.S100R

c.300T>A

1 paper

NM_001168302.2

p.L171P

c.512T>C

1 paper

NM_001168302.2

p.G174_V175Splc

c.522+2T>C

1 paper

NM_001168302.2

p.Y198S

c.593A>C

1 paper

NM_001168302.2

p.P306S

c.916C>T

1 paper

NM_001168302.2

p.E352*

c.1054G>T

1 paper

NM_001168302.2

p.E438K

c.1312G>A

1 paper

NM_001168302.2

p.L511V

c.1531C>G

1 paper

NM_001168302.2

p.E633Q

c.1897G>C

1 paper

NM_001168302.2

p.A638S

c.1912G>T