Varaico: Literature-Extracted Genetic Variants

AFDN

179 papers

RefSeq Summary

This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemi...

Pfam Domains

RAaa 39–133UCSCRas association (RalGDS/AF-6) domain

RAaa 246–348UCSCRas association (RalGDS/AF-6) domain

FHAaa 426–492UCSCFHA domain

DILaa 744–848UCSCDIL domain

PDZaa 967–1049UCSCPDZ domain

AFDNaa 1477–1620UCSCAfadin-like domain

Gene Aliases

HGNC Name

afadin, adherens junction formation factor

HGNC Previous Symbol

MLLT4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386888.1

p.T355del1

c.1063_1064delACC

Surrounding Variants

1 paper

NM_001386888.1

p.L359V

c.1075T>G

2 papers

NM_001386888.1

p.G361V

c.1082G>T

1 paper

NM_001386888.1

p.P347L

c.1040C>T

1 paper

NM_001386888.1

p.Q342L

c.1025A>T

1 paper

NM_001386888.1

p.R369G

c.1105A>G

1 paper

NM_001386888.1

p.A370P

c.1108G>C

1 paper

NM_001386888.1

p.G337insFs

c.1010_1011insA

1 paper

NM_001386888.1

p.E382delFs

c.1146delG

1 paper

NM_001386888.1

p.K383fs

c.1147_1148fs

1 paper

NM_001386888.1

p.L384M

c.1150C>A

1 paper

NM_001386888.1

p.L390delFs

c.1168_1169delTT

1 paper

NM_001386888.1

p.K336fs

c.1006_1007fs