Varaico: Literature-Extracted Genetic Variants

FHIP1B

54 papers

RefSeq Summary

The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that t...

Pfam Domains

RAI16-likeaa 96–426UCSCRetinoic acid induced 16-like protein

DUF5917aa 738–831UCSCFamily of unknown function (DUF5917)

KELAAaa 919–950UCSCKELAA motif

Gene Aliases

HGNC Name

FHF complex subunit HOOK interacting protein 1B

HGNC Previous Symbols

C11orf56; FAM160A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098794.2

p.A541G

c.1622C>G

Surrounding Variants

1 paper

NM_001098794.2

p.R537Q

c.1610G>A

1 paper

NM_001098794.2

p.L555L

c.1665G>C

1 paper

NM_001098794.2

p.A558A

c.1674A>G

1 paper

NM_001098794.2

p.R564H

c.1691G>A

1 paper

NM_001098794.2

p.G578D

c.1733G>A

1 paper

NM_001098794.2

p.T491M

c.1472C>T

1 paper

NM_001098794.2

p.E612fs

c.1834_1835fs

1 paper

NM_001098794.2

p.E612_L614delFs

c.1835_1841del7

1 paper

NM_001098794.2

p.A620fs

c.1858_1859fs

1 paper

NM_001098794.2

p.A620delFs

c.1859_1860delAG

1 paper

NM_001098794.2

p.G622C

c.1864G>T

1 paper

NM_001098794.2

p.G622delFs

c.1866delA