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.F85L

c.253T>C

Surrounding Variants

1 paper

NM_022047.4

p.N108H

c.322A>C

1 paper

NM_022047.4

p.G109R

c.325G>A

1 paper

NM_022047.4

p.G109R

c.325G>C

1 paper

NM_022047.4

p.M137V

c.409A>G

1 paper

NM_022047.4

p.K79_V80Splc

c.237+1G>C

1 paper

NM_022047.4

p.I76delFs

c.227delT

1 paper

NM_022047.4

p.D57N

c.169G>A

1 paper

NM_022047.4

p.L34Q

c.101T>A

1 paper

NM_022047.4

p.V33A

c.98T>C

1 paper

NM_022047.4

p.S154N

c.461G>A

1 paper

NM_022047.4

p.G191G

c.573C>T

1 paper

NM_022047.4

p.E208K

c.622G>A