Varaico: Literature-Extracted Genetic Variants

DEF6

64 papers

RefSeq Summary

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OM...

Pfam Domains

EF-hand_SWAP70_Naa 1–95UCSCSwitch-associated protein 70-like, N-terminal EF-hand domain

PHaa 217–312UCSCPH domain

Gene Aliases

HGNC Name

DEF6 guanine nucleotide exchange factor

HGNC Alias Symbols

IBP; SLAT; SWAP70L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022047.4

p.R534C

c.1600C>T

Surrounding Variants

1 paper

NM_022047.4

p.K532K

c.1596A>G

1 paper

NM_022047.4

p.R560H

c.1679G>A

1 paper

NM_022047.4

p.L574V

c.1720C>G

1 paper

NM_022047.4

p.R578H

c.1733G>A

1 paper

NM_022047.4

p.L582Q

c.1745T>A

1 paper

NM_022047.4

p.K583N

c.1749G>C

1 paper

NM_022047.4

p.K583N

c.1749G>T

1 paper

NM_022047.4

p.R587C

c.1759C>T

1 paper

NM_022047.4

p.P614L

c.1841C>T

1 paper

NM_022047.4

p.A617T

c.1849G>A

1 paper

NM_022047.4

p.P620L

c.1859C>T

1 paper

NM_022047.4

p.A487A

c.1461G>A