Varaico: Literature-Extracted Genetic Variants

MITD1

22 papers

RefSeq Summary

Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as...

Pfam Domains

MITaa 13–77UCSCMIT (microtubule interacting and transport) domain

MIT_Caa 100–242UCSCPhospholipase D-like domain at C-terminus of MIT

Gene Aliases

HGNC Name

microtubule interacting and trafficking domain containing 1

HGNC Alias Symbol

LOC129531

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138798.3

p.V18M

c.52G>A

Surrounding Variants

1 paper

NM_138798.3

p.T17A

c.49A>G

1 paper

NM_138798.3

p.Q8K

c.22C>A

1 paper

NM_138798.3

p.L6Q

c.17T>A

1 paper

NM_138798.3

p.G5E

c.14G>A

1 paper

NM_138798.3

p.G5R

c.13G>A

1 paper

NM_138798.3

p.D43V

c.128A>T

1 paper

NM_138798.3

p.I65insFs

c.193dupA

1 paper

NM_138798.3

p.I65fs

c.193_194fs

1 paper

NM_138798.3

p.E73A

c.218A>C

1 paper

NM_138798.3

p.E73D

c.219A>T

1 paper

NM_138798.3

p.E73D

c.219A>C

2 papers

NM_138798.3

p.K76N

c.228G>T