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

3 papers

NM_001098794.2

p.R727W

c.2179C>T

Surrounding Variants

1 paper

NM_001098794.2

p.P701T

c.2101C>A

1 paper

NM_001098794.2

p.L685_G688del4

c.2053_2063del12

1 paper

NM_001098794.2

p.N687S

c.2060A>G

1 paper

NM_001098794.2

p.E682E

c.2046G>A

1 paper

NM_001098794.2

p.E680K

c.2038G>A

1 paper

NM_001098794.2

p.K648K

c.1944G>A

1 paper

NM_001098794.2

p.N636delFs

c.1908delA

1 paper

NM_001098794.2

p.Q634delFs

c.1901_1902delCT

1 paper

NM_001098794.2

p.Q634Q

c.1902G>A

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