Varaico: Literature-Extracted Genetic Variants

KLHL6

202 papers

RefSeq Summary

This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains...

Pfam Domains

BTBaa 62–169UCSCBTB/POZ domain

BACKaa 174–276UCSCBTB And C-terminal Kelch

Kelch_KLHDC2_KLHL20_DRC7aa 312–523UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Kelch_1aa 547–585UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 6

HGNC Alias Symbol

FLJ00029

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_130446.4

p.I80L

c.238A>C

Surrounding Variants

1 paper

NM_130446.4

p.I80V

c.238A>G

1 paper

NM_130446.4

p.I80T

c.239T>C

1 paper

NM_130446.4

p.I80M

c.240T>G

1 paper

NM_130446.4

p.D79V

c.236A>T

5 papers

NM_130446.4

p.Q81*

c.241C>T

1 paper

NM_130446.4

p.Q81K

c.241C>A

1 paper

NM_130446.4

p.Q81P

c.242A>C

1 paper

NM_130446.4

p.V78G

c.233T>G

1 paper

NM_130446.4

p.V78E

c.233T>A

1 paper

NM_130446.4

p.V78L

c.232G>T

1 paper

NM_130446.4

p.V78L

c.232G>C

1 paper

NM_130446.4

p.E82K

c.244G>A