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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_022047.4

p.A17A

c.51G>T

1 paper

NM_022047.4

p.V20G

c.59T>G

1 paper

NM_022047.4

p.K32_V33Splc

c.96+502G>C