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.Q634delFs

c.1901_1902delCT

Surrounding Variants

1 paper

NM_001098794.2

p.Q634Q

c.1902G>A

1 paper

NM_001098794.2

p.N636delFs

c.1908delA

1 paper

NM_001098794.2

p.G626_G628delFs

c.1877_1883del7

1 paper

NM_001098794.2

p.G622delFs

c.1866delA

1 paper

NM_001098794.2

p.A623fs

c.1867_1868fs

1 paper

NM_001098794.2

p.G622C

c.1864G>T

1 paper

NM_001098794.2

p.K648K

c.1944G>A

1 paper

NM_001098794.2

p.A620delFs

c.1859_1860delAG

1 paper

NM_001098794.2

p.A620fs

c.1858_1859fs

1 paper

NM_001098794.2

p.E612_L614delFs

c.1835_1841del7

1 paper

NM_001098794.2

p.E612fs

c.1834_1835fs

1 paper

NM_001098794.2

p.E680K

c.2038G>A