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.H86H

c.258C>T

Surrounding Variants

2 papers

NM_130446.4

p.R87C

c.259C>T

2 papers

NM_130446.4

p.H86L

c.257A>T

1 paper

NM_130446.4

p.H86R

c.257A>G

1 paper

NM_130446.4

p.R87P

c.260G>C

1 paper

NM_130446.4

p.H86Y

c.256C>T

1 paper

NM_130446.4

p.S84_C85del2

c.250_254del6

2 papers

NM_130446.4

p.C85W

c.255C>G

4 papers

NM_130446.4

p.C85Y

c.254G>A

2 papers

NM_130446.4

p.V88M

c.262G>A

3 papers

NM_130446.4

p.C85R

c.253T>C

1 paper

NM_130446.4

p.V88A

c.263T>C

2 papers

NM_130446.4

p.V88E

c.263T>A