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

2 papers

NM_130446.4

p.N69D

c.205A>G

Surrounding Variants

1 paper

NM_130446.4

p.N69S

c.206A>G

1 paper

NM_130446.4

p.N69N

c.207C>T

1 paper

NM_130446.4

p.N69K

c.207C>G

1 paper

NM_130446.4

p.N69K

c.207C>A

1 paper

NM_130446.4

p.E68G

c.203A>G

1 paper

NM_130446.4

p.A70P

c.208G>C

1 paper

NM_130446.4

p.A70T

c.208G>A

1 paper

NM_130446.4

p.M67I

c.201G>T

1 paper

NM_130446.4

p.M67I

c.201G>C

1 paper

NM_130446.4

p.M67I

c.201G>A

1 paper

NM_130446.4

p.M67delFs

c.199_200delAT

1 paper

NM_130446.4

p.A70G

c.209C>G