Varaico: Literature-Extracted Genetic Variants

IPP

111 papers

RefSeq Summary

The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but t...

Pfam Domains

BTBaa 27–134UCSCBTB/POZ domain

BACKaa 139–241UCSCBTB And C-terminal Kelch

Kelch_1aa 332–377UCSCKelch motif

Kelch_KLHDC2_KLHL20_DRC7aa 392–581UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

intracisternal A particle-promoted polypeptide

HGNC Alias Symbol

KLHL27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005897.3

p.T318S

c.953C>G

Surrounding Variants

1 paper

NM_005897.3

p.T318S

c.952A>T

1 paper

NM_005897.3

p.D317A

c.950A>C

1 paper

NM_005897.3

p.S320I

c.959G>T

1 paper

NM_005897.3

p.D306N

c.916G>A

1 paper

NM_005897.3

p.G335R

c.1003G>C

1 paper

NM_005897.3

p.G335R

c.1003G>A

1 paper

NM_005897.3

p.G294A

c.881G>C

1 paper

NM_005897.3

p.G294Splc

c.880+17A>G

2 papers

NM_005897.3

p.K284N

c.852G>T

2 papers

NM_005897.3

p.K284N

c.852G>C

1 paper

NM_005897.3

p.R283W

c.847C>T

1 paper

NM_005897.3

p.R281Q

c.842G>A