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.V86delFs

c.257_258delAA

Surrounding Variants

1 paper

NM_001098794.2

p.P90T

c.268C>A

1 paper

NM_001098794.2

p.M76I

c.228G>T

1 paper

NM_001098794.2

p.M76I

c.228G>C

1 paper

NM_001098794.2

p.M76I

c.228G>A

1 paper

NM_001098794.2

p.A100D

c.299C>A

1 paper

NM_001098794.2

p.G62_L66del5

c.184_197del15

1 paper

NM_001098794.2

p.D65insFs

c.194dupA

1 paper

NM_001098794.2

p.P60L

c.179C>T

1 paper

NM_001098794.2

p.P60S

c.178C>T

1 paper

NM_001098794.2

p.R53W

c.157C>T

1 paper

NM_001098794.2

p.V47_V48delFs

c.140_144del5

1 paper

NM_001098794.2

p.Q46_V47Splc

c.139-6C>T