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.L265H

c.794T>A

Surrounding Variants

1 paper

NM_001098794.2

p.S266C

c.796A>T

1 paper

NM_001098794.2

p.S266R

c.796A>C

1 paper

NM_001098794.2

p.S266R

c.798T>G

1 paper

NM_001098794.2

p.S266R

c.798T>A

1 paper

NM_001098794.2

p.R274Q

c.821G>A

1 paper

NM_001098794.2

p.L286Q

c.857T>A

1 paper

NM_001098794.2

p.R288W

c.862C>T

1 paper

NM_001098794.2

p.S302I

c.905G>T

1 paper

NM_001098794.2

p.N308S

c.923A>G

1 paper

NM_001098794.2

p.F257_C258delFs

c.771_774del4

1 paper

NM_001098794.2

p.F257_C258del2

c.769_773del6

1 paper

NM_001098794.2

p.K341_T342Splc

c.1023+1G>A