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.A206V

c.617C>T

Surrounding Variants

1 paper

NM_001098794.2

p.L210V

c.628C>G

1 paper

NM_001098794.2

p.Q199Q

c.597G>A

1 paper

NM_001098794.2

p.R215L

c.644G>T

1 paper

NM_001098794.2

p.E190*

c.568G>T

1 paper

NM_001098794.2

p.Q229_A230delFs

c.685_688del4

1 paper

NM_001098794.2

p.R164C

c.490C>T

1 paper

NM_001098794.2

p.R249C

c.745C>T

2 papers

NM_001098794.2

p.I251F

c.751A>T

1 paper

NM_001098794.2

p.F257_C258del2

c.769_773del6

1 paper

NM_001098794.2

p.F257_C258delFs

c.771_774del4

1 paper

NM_001098794.2

p.R147Q

c.440G>A

1 paper

NM_001098794.2

p.A100D

c.299C>A