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.C362delFs

c.1085delC

Surrounding Variants

1 paper

NM_005897.3

p.C362fs

c.1084_1085fs

1 paper

NM_005897.3

p.H378Y

c.1132C>T

1 paper

NM_005897.3

p.C381C

c.1143C>T

1 paper

NM_005897.3

p.C388S

c.1162T>A

1 paper

NM_005897.3

p.C388fs

c.1162_1163fs

1 paper

NM_005897.3

p.C388S

c.1163G>C

4 papers

NM_005897.3

p.C388fs

c.1162_1163fs

4 papers

NM_005897.3

p.C388delFs

c.1163_1164delAC

1 paper

NM_005897.3

p.N405N

c.1215C>T

1 paper

NM_005897.3

p.R409Q

c.1226G>A

1 paper

NM_005897.3

p.V419A

c.1256T>C

1 paper

NM_005897.3

p.S426*

c.1277C>G