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.S55P

c.163T>C

Surrounding Variants

1 paper

NM_130446.4

p.S55A

c.163T>G

1 paper

NM_130446.4

p.L54P

c.161T>C

1 paper

NM_130446.4

p.L54V

c.160C>G

4 papers

NM_130446.4

p.L56*

c.167T>G

1 paper

NM_130446.4

p.L56S

c.167T>C

4 papers

NM_130446.4

p.L56*

c.167T>A

2 papers

NM_130446.4

p.L56F

c.168A>T

2 papers

NM_130446.4

p.L56F

c.168A>C

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.A52T

c.154G>A

4 papers

NM_130446.4

p.L58P

c.173T>C