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.A477delFs

c.1429_1430delGC

Surrounding Variants

1 paper

NM_001098794.2

p.A477fs

c.1429_1430fs

1 paper

NM_001098794.2

p.S475delFs

c.1425delT

1 paper

NM_001098794.2

p.W476fs

c.1426_1427fs

1 paper

NM_001098794.2

p.A474delFs

c.1422delG

1 paper

NM_001098794.2

p.S475fs

c.1423_1424fs

1 paper

NM_001098794.2

p.H473fs

c.1417_1418fs

1 paper

NM_001098794.2

p.E472insFs

c.1416dupG

1 paper

NM_001098794.2

p.E472*

c.1414G>T

1 paper

NM_001098794.2

p.P471_E472insFs

c.1413_1414insT

1 paper

NM_001098794.2

p.P471fs

c.1411_1412fs

1 paper

NM_001098794.2

p.R470_P471insFs

c.1410_1411insGC

1 paper

NM_001098794.2

p.R462R

c.1386G>A