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.N60I

c.179A>T

Surrounding Variants

1 paper

NM_130446.4

p.N60T

c.179A>C

1 paper

NM_130446.4

p.Q59*

c.175C>T

4 papers

NM_130446.4

p.L58P

c.173T>C

3 papers

NM_130446.4

p.L62P

c.185T>C

1 paper

NM_130446.4

p.L62Q

c.185T>A

1 paper

NM_130446.4

p.E63*

c.187G>T

1 paper

NM_130446.4

p.E63K

c.187G>A

1 paper

NM_130446.4

p.I57S

c.170T>G

2 papers

NM_130446.4

p.I57N

c.170T>A

2 papers

NM_130446.4

p.T64S

c.190A>T

2 papers

NM_130446.4

p.L56F

c.168A>T

2 papers

NM_130446.4

p.T64A

c.190A>G